Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37000947_37001007delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC , CM000665.2:g.37000947_37001007delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC	GRCh38
NC_000003.11:g.37042438_37042498delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC , CM000665.1:g.37042438_37042498delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC	GRCh37
NC_000003.10:g.37017442_37017502delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC	NCBI36
NG_007109.2:g.12598_12658delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC , LRG_216:g.12598_12658delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.208-8_260delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000429117.6:c.-82-8_-30delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000450420.6:c.208-8_260delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000456676.7:c.208-8_260delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000458009.6:c.208-8_260delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000492474.6:c.-516-8_-464delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000616768.6:c.208-8_260delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000673673.2:c.208-8_260delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000231790.8:c.208-8_260delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000413212.2:c.-516-8_-464delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000432299.6:c.288-8_340delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000441265.6:c.-516-8_-464delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000442249.6:n.223-8_275delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000447829.6:c.-82-8_-30delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000539477.6:c.-424-8_-372delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000673673.1:c.161-8_213delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000673713.1:n.239-8_291delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000673715.1:c.208-8_260delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000673897.1:c.117-8_*52delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000673899.1:c.208-8_260delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000673947.1:c.348-8_400delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000673972.1:c.86-8_138delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000673990.1:n.193-8_245delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000674019.1:c.-516-8_-464delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000674107.1:n.150-8_202delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000674111.1:c.208-8_260delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000231790.6:c.208-8_260delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000429117.5:c.-82-8_-30delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000432299.5:c.288-8_340delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000435176.5:c.-82-8_-30delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000441265.5:c.-424-8_-372delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000442249.5:c.117-8_*52delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000454028.5:c.86-8_138delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000455445.6:c.-516-8_-464delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000456676.6:c.183-8_235delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000457004.5:c.86-3454_86-3394delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC	ENSP00000407773.1:n.86-3454_86-3394deli...
ENST00000458205.6:c.-516-8_-464delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000466900.5:n.135-8_187delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000476172.5:n.330-8_382delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000485889.1:n.212-8_264delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000492474.5:n.231-8_283delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000536378.5:c.-516-8_-464delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
ENST00000539477.5:c.-424-8_-372delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_000249.3:c.208-8_260delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC , LRG_216t1:c.208-8_260delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001167617.1:c.-82-8_-30delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001167618.1:c.-516-8_-464delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001167619.1:c.-424-8_-372delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001258271.1:c.208-8_260delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001258273.1:c.-516-8_-464delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001258274.1:c.-516-8_-464delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
XM_005265161.1:c.208-8_260delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
XM_005265163.1:c.-516-8_-464delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
XM_005265164.1:c.-516-8_-464delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
XM_005265166.1:c.-722-8_-670delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
XM_011533727.1:c.-619-8_-567delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001167617.2:c.-82-8_-30delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001167618.2:c.-516-8_-464delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001167619.2:c.-424-8_-372delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001258274.2:c.-516-8_-464delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001354615.1:c.-419-8_-367delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001354616.1:c.-424-8_-372delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001354617.1:c.-516-8_-464delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001354618.1:c.-516-8_-464delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001354619.1:c.-516-8_-464delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001354620.1:c.-82-8_-30delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001354621.1:c.-609-8_-557delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001354622.1:c.-722-8_-670delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001354623.1:c.-722-8_-670delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001354624.1:c.-619-8_-567delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001354625.1:c.-522-8_-470delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001354626.1:c.-619-8_-567delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001354627.1:c.-619-8_-567delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001354628.1:c.208-8_260delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001354629.1:c.208-3454_208-3394delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC	NP_001341558.1:n.208-3454_208-3394delinsT...
NM_001354630.1:c.208-8_260delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
XM_005265161.2:c.208-8_260delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
XM_017006450.2:c.-609-8_-557delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_000249.4:c.208-8_260delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001167617.3:c.-82-8_-30delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001167618.3:c.-516-8_-464delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001167619.3:c.-424-8_-372delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001258271.2:c.208-8_260delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001258273.2:c.-516-8_-464delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001258274.3:c.-516-8_-464delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001354615.2:c.-419-8_-367delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001354616.2:c.-424-8_-372delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001354617.2:c.-516-8_-464delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001354618.2:c.-516-8_-464delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001354619.2:c.-516-8_-464delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001354620.2:c.-82-8_-30delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001354621.2:c.-609-8_-557delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001354622.2:c.-722-8_-670delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001354623.2:c.-722-8_-670delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001354624.2:c.-619-8_-567delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001354625.2:c.-522-8_-470delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001354626.2:c.-619-8_-567delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001354627.2:c.-619-8_-567delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001354628.2:c.208-8_260delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
NM_001354629.2:c.208-3454_208-3394delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC	NP_001341558.1:n.208-3454_208-3394delinsT...
NM_001354630.2:c.208-8_260delinsTCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC