Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57674768_57674773delinsTCAATA , CM000680.2:g.57674768_57674773delinsTCAATA	GRCh38
NC_000018.9:g.55342000_55342005delinsTCAATA , CM000680.1:g.55342000_55342005delinsTCAATA	GRCh37
NC_000018.8:g.53492998_53493003delinsTCAATA	NCBI36
NG_007148.2:g.133323_133328delinsTATTGA
NG_007148.3:g.134050_134055delinsTATTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642462.1:c.1819+61_1819+66delinsTATTGA	ENSP00000494712.1:n.1819+61_1819+66delinsTATTGA
ENST00000648039.1:c.1819+61_1819+66delinsTATTGA	ENSP00000497863.1:n.1819+61_1819+66delinsTATTGA
ENST00000648467.1:c.1684+61_1684+66delinsTATTGA
ENST00000648908.2:c.1819+61_1819+66delinsTATTGA MANE Select	ENSP00000497896.1:n.1819+61_1819+66delinsTATTGA
ENST00000283684.8:c.1819+61_1819+66delinsTATTGA	ENSP00000283684.4:n.1819+61_1819+66delinsTATTGA
ENST00000536015.5:c.1819+61_1819+66delinsTATTGA	ENSP00000445359.1:n.1819+61_1819+66delinsTATTGA
NM_005603.4:c.1819+61_1819+66delinsTATTGA	NP_005594.1:n.1819+61_1819+66delinsTATTGA
XM_006722481.2:c.1819+61_1819+66delinsTATTGA	XP_006722544.1:n.1819+61_1819+66delinsTATTGA
XM_011526020.1:c.1819+61_1819+66delinsTATTGA	XP_011524322.1:n.1819+61_1819+66delinsTATTGA
XM_011526021.1:c.1819+61_1819+66delinsTATTGA	XP_011524323.1:n.1819+61_1819+66delinsTATTGA
XM_011526022.1:c.1819+61_1819+66delinsTATTGA	XP_011524324.1:n.1819+61_1819+66delinsTATTGA
XM_011526023.1:c.1705+61_1705+66delinsTATTGA	XP_011524325.1:n.1705+61_1705+66delinsTATTGA
XM_011526024.1:c.1099+61_1099+66delinsTATTGA	XP_011524326.1:n.1099+61_1099+66delinsTATTGA
NM_005603.6:c.1819+61_1819+66delinsTATTGA	NP_005594.2:n.1819+61_1819+66delinsTATTGA
XM_006722481.4:c.1819+61_1819+66delinsTATTGA	XP_006722544.1:n.1819+61_1819+66delinsTATTGA
XM_011526023.3:c.1705+61_1705+66delinsTATTGA	XP_011524325.1:n.1705+61_1705+66delinsTATTGA
NM_001374385.1:c.1819+61_1819+66delinsTATTGA MANE Select	NP_001361314.1:n.1819+61_1819+66delinsTATTGA
NM_001374386.1:c.1669+61_1669+66delinsTATTGA	NP_001361315.1:n.1669+61_1669+66delinsTATTGA