Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132483811_132483812delinsAG , CM000667.2:g.132483811_132483812delinsAG	GRCh38
NC_000005.9:g.131819503_131819504delinsAG , CM000667.1:g.131819503_131819504delinsAG	GRCh37
NC_000005.8:g.131847402_131847403delinsAG	NCBI36
NG_011450.1:g.11962_11963delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.139_140delinsCT MANE Select	ENSP00000245414.4:n.139_140delinsCT
ENST00000638452.2:c.-169+34122_-169+34123delinsAG	ENSP00000492349.2:n.-169+34122_-169+34123delinsAG
ENST00000638504.1:n.206+63871_206+63872delinsAG
ENST00000638568.2:c.-311+34122_-311+34123delinsAG	ENSP00000491158.2:n.-311+34122_-311+34123delinsAG
ENST00000639899.1:n.289+34122_289+34123delinsAG
ENST00000640655.2:c.-637-2381_-637-2380delinsAG	ENSP00000491596.2:n.-637-2381_-637-2380delinsAG
ENST00000679786.1:n.130+2745_130+2746delinsCT
ENST00000679921.1:c.292+2745_292+2746delinsCT	ENSP00000505766.1:n.292+2745_292+2746delinsCT
ENST00000679945.1:n.130+2745_130+2746delinsCT
ENST00000679964.1:n.50+1855_50+1856delinsCT
ENST00000680139.1:c.139_140delinsCT	ENSP00000506148.1:n.139_140delinsCT
ENST00000680380.1:n.136+550_136+551delinsCT
ENST00000680594.1:n.136+550_136+551delinsCT
ENST00000681049.1:n.50+1855_50+1856delinsCT
ENST00000681634.1:n.136+550_136+551delinsCT
ENST00000245414.8:c.139_140delinsCT	ENSP00000245414.4:n.139_140delinsCT
ENST00000405885.6:c.139_140delinsCT	ENSP00000384406.1:n.139_140delinsCT
ENST00000472045.1:n.4426_4427delinsCT
NM_002198.2:c.139_140delinsCT	NP_002189.1:n.139_140delinsCT
XM_011543378.1:c.139_140delinsCT	XP_011541680.1:n.139_140delinsCT
XM_011543379.1:c.139_140delinsCT	XP_011541681.1:n.139_140delinsCT
XR_427711.2:n.1178_1179delinsCT
NM_001354924.1:c.139_140delinsCT	NP_001341853.1:n.139_140delinsCT
NM_001354925.1:c.139_140delinsCT	NP_001341854.1:n.139_140delinsCT
NR_149068.1:n.1178_1179delinsCT
XM_011543379.2:c.139_140delinsCT	XP_011541681.1:n.139_140delinsCT
NM_002198.3:c.139_140delinsCT MANE Select	NP_002189.1:n.139_140delinsCT