Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.25227348_25227349delinsAA , CM000674.2:g.25227348_25227349delinsAA	GRCh38
NC_000012.11:g.25380282_25380283delinsAA , CM000674.1:g.25380282_25380283delinsAA	GRCh37
NC_000012.10:g.25271549_25271550delinsAA	NCBI36
NG_007524.1:g.28572_28573delinsTT
NG_007524.2:g.28655_28656delinsTT

Transcript Alleles

HGVS	Amino-acid Change
NM_004985.5:c.175_176delinsTT MANE Select	NP_004976.2:p.Ala59Leu
ENST00000311936.8:c.175_176delinsTT MANE Select	ENSP00000308495.3:p.Ala59Leu
NM_033360.4:c.175_176delinsTT MANE Plus Clinical	NP_203524.1:p.Ala59Leu
ENST00000256078.10:c.175_176delinsTT MANE Plus Clinical	ENSP00000256078.5:p.Ala59Leu
NM_001369786.1:c.175_176delinsTT	NP_001356715.1:p.Ala59Leu
NM_001369787.1:c.175_176delinsTT	NP_001356716.1:p.Ala59Leu
NM_004985.4:c.175_176delinsTT	NP_004976.2:p.Ala59Leu
NM_033360.3:c.175_176delinsTT	NP_203524.1:p.Ala59Leu
ENST00000256078.8:c.175_176delinsTT	ENSP00000256078.4:p.Ala59Leu
ENST00000311936.7:c.175_176delinsTT	ENSP00000308495.3:p.Ala59Leu
ENST00000557334.5:c.112-17438_112-17437delinsTT	ENSP00000452512.1:n.112-17438_112-17437delinsTT
ENST00000557334.6:c.112-17438_112-17437delinsTT	ENSP00000452512.1:n.112-17438_112-17437delinsTT
ENST00000685328.1:c.175_176delinsTT	ENSP00000508921.1:p.Ala59Leu
ENST00000686877.1:c.146_147delinsTT	ENSP00000510431.1:n.146_147delinsTT
ENST00000687356.1:c.112-1576_112-1575delinsTT	ENSP00000510511.1:n.112-1576_112-1575delinsTT
ENST00000688228.1:n.649_650delinsTT
ENST00000688940.1:c.175_176delinsTT	ENSP00000509238.1:p.Ala59Leu
ENST00000690804.1:c.136_137delinsTT	ENSP00000508568.1:n.136_137delinsTT
ENST00000692768.1:c.-24_-23delinsTT	ENSP00000510254.1:n.-24_-23delinsTT
ENST00000693229.1:c.112-12_112-11delinsTT	ENSP00000509223.1:n.112-12_112-11delinsTT
XM_006719069.2:c.175_176delinsTT	XP_006719132.1:p.Ala59Leu
XM_006719069.4:c.175_176delinsTT	XP_006719132.1:p.Ala59Leu
XM_011520653.1:c.175_176delinsTT	XP_011518955.1:p.Ala59Leu
XM_011520653.3:c.175_176delinsTT	XP_011518955.1:p.Ala59Leu