Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23166039_23166040delinsCT , CM000669.2:g.23166039_23166040delinsCT	GRCh38
NC_000007.13:g.23205658_23205659delinsCT , CM000669.1:g.23205658_23205659delinsCT	GRCh37
NC_000007.12:g.23172183_23172184delinsCT	NCBI36
NG_016983.1:g.65306_65307delinsCT
NG_016983.2:g.65306_65307delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1177+101_1177+102delinsCT MANE Select	ENSP00000343273.4:n.1177+101_1177+102delinsCT
ENST00000339077.9:c.1177+101_1177+102delinsCT	ENSP00000343273.4:n.1177+101_1177+102delinsCT
ENST00000409689.5:c.1033+101_1033+102delinsCT	ENSP00000386263.1:n.1033+101_1033+102delinsCT
ENST00000469576.1:n.64+101_64+102delinsCT
ENST00000521082.5:c.1185+101_1185+102delinsCT	ENSP00000430351.1:n.1185+101_1185+102delinsCT
NM_001031710.2:c.1177+101_1177+102delinsCT	NP_001026880.2:n.1177+101_1177+102delinsCT
NM_018846.4:c.1033+101_1033+102delinsCT	NP_061334.4:n.1033+101_1033+102delinsCT
NR_033328.1:n.1601+101_1601+102delinsCT
XM_006715753.1:c.1216+101_1216+102delinsCT	XP_006715816.1:n.1216+101_1216+102delinsCT
XM_006715754.1:c.1150+101_1150+102delinsCT	XP_006715817.1:n.1150+101_1150+102delinsCT
XM_006715755.1:c.1150+101_1150+102delinsCT	XP_006715818.1:n.1150+101_1150+102delinsCT
XM_006715756.1:c.1072+101_1072+102delinsCT	XP_006715819.1:n.1072+101_1072+102delinsCT
XM_006715753.3:c.1216+101_1216+102delinsCT	XP_006715816.1:n.1216+101_1216+102delinsCT
XM_006715754.3:c.1150+101_1150+102delinsCT	XP_006715817.1:n.1150+101_1150+102delinsCT
XM_006715755.3:c.1150+101_1150+102delinsCT	XP_006715818.1:n.1150+101_1150+102delinsCT
XM_006715756.3:c.1072+101_1072+102delinsCT	XP_006715819.1:n.1072+101_1072+102delinsCT
XM_017012439.2:c.1111+101_1111+102delinsCT	XP_016867928.1:n.1111+101_1111+102delinsCT
NM_001031710.3:c.1177+101_1177+102delinsCT MANE Select	NP_001026880.2:n.1177+101_1177+102delinsCT
NM_018846.5:c.1033+101_1033+102delinsCT	NP_061334.4:n.1033+101_1033+102delinsCT
NR_033328.2:n.1550+101_1550+102delinsCT