Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87954234_87954235delinsAT , CM000672.2:g.87954234_87954235delinsAT	GRCh38
NC_000010.10:g.89713991_89713992delinsAT , CM000672.1:g.89713991_89713992delinsAT	GRCh37
NC_000010.9:g.89703971_89703972delinsAT	NCBI36
NG_007466.2:g.95796_95797delinsAT , LRG_311:g.95796_95797delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.634+1975_634+1976delinsAT	ENSP00000514759.2:n.634+1975_634+1976delinsAT
ENST00000710265.1:c.634+1975_634+1976delinsAT	ENSP00000518161.1:n.634+1975_634+1976delinsAT
ENST00000472832.3:c.634+1975_634+1976delinsAT	ENSP00000483066.2:n.634+1975_634+1976delinsAT
ENST00000688158.2:n.1369+1975_1369+1976delinsAT
ENST00000688922.2:c.464+1975_464+1976delinsAT	ENSP00000508742.2:n.464+1975_464+1976delinsAT
ENST00000700021.1:c.589+1975_589+1976delinsAT	ENSP00000514757.1:n.589+1975_589+1976delinsAT
ENST00000700022.1:c.493-3619_493-3618delinsAT	ENSP00000514758.1:n.493-3619_493-3618delinsAT
ENST00000700023.1:n.1792+1975_1792+1976delinsAT
ENST00000700024.1:n.2026+1975_2026+1976delinsAT
ENST00000700025.1:n.1403+1975_1403+1976delinsAT
ENST00000700029.1:c.468+1975_468+1976delinsAT
ENST00000706954.1:c.634+1975_634+1976delinsAT	ENSP00000516674.1:n.634+1975_634+1976delinsAT
ENST00000706955.1:c.669+1975_669+1976delinsAT	ENSP00000516675.1:n.669+1975_669+1976delinsAT
ENST00000686459.1:c.220+1975_220+1976delinsAT	ENSP00000508909.1:n.220+1975_220+1976delinsAT
ENST00000688158.1:c.745+1975_745+1976delinsAT	ENSP00000509254.1:n.745+1975_745+1976delinsAT
ENST00000688308.1:c.634+1975_634+1976delinsAT	ENSP00000508752.1:n.634+1975_634+1976delinsAT
ENST00000688922.1:c.555+1975_555+1976delinsAT
ENST00000693560.1:c.1153+1975_1153+1976delinsAT	ENSP00000509861.1:n.1153+1975_1153+1976delinsAT
ENST00000371953.8:c.634+1975_634+1976delinsAT MANE Select	ENSP00000361021.3:n.634+1975_634+1976delinsAT
ENST00000371953.7:c.634+1975_634+1976delinsAT	ENSP00000361021.3:n.634+1975_634+1976delinsAT
ENST00000472832.2:c.61+1975_61+1976delinsAT	ENSP00000483066.1:n.61+1975_61+1976delinsAT
NM_000314.5:c.634+1975_634+1976delinsAT	NP_000305.3:n.634+1975_634+1976delinsAT
NM_000314.6:c.634+1975_634+1976delinsAT	NP_000305.3:n.634+1975_634+1976delinsAT
NM_001304717.2:c.1153+1975_1153+1976delinsAT	NP_001291646.2:n.1153+1975_1153+1976delinsAT
NM_001304718.1:c.43+1975_43+1976delinsAT	NP_001291647.1:n.43+1975_43+1976delinsAT
XM_006717926.2:c.589+1975_589+1976delinsAT	XP_006717989.1:n.589+1975_589+1976delinsAT
XM_011539981.1:c.634+1975_634+1976delinsAT	XP_011538283.1:n.634+1975_634+1976delinsAT
XM_011539982.1:c.538+1975_538+1976delinsAT	XP_011538284.1:n.538+1975_538+1976delinsAT
XR_945791.1:n.1205-3619_1205-3618delinsAT
NM_000314.7:c.634+1975_634+1976delinsAT	NP_000305.3:n.634+1975_634+1976delinsAT
NM_001304717.5:c.1153+1975_1153+1976delinsAT	NP_001291646.4:n.1153+1975_1153+1976delinsAT
NM_001304718.2:c.43+1975_43+1976delinsAT	NP_001291647.1:n.43+1975_43+1976delinsAT
NM_000314.8:c.634+1975_634+1976delinsAT MANE Select	NP_000305.3:n.634+1975_634+1976delinsAT