Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222170_7222171delinsTC , CM000679.2:g.7222170_7222171delinsTC	GRCh38
NC_000017.10:g.7125489_7125490delinsTC , CM000679.1:g.7125489_7125490delinsTC	GRCh37
NC_000017.9:g.7066213_7066214delinsTC	NCBI36
NG_007975.1:g.7337_7338delinsTC
NG_008391.2:g.2880_2881delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.753-7_753-6delinsTC MANE Select	ENSP00000349297.5:n.753-7_753-6delinsTC
ENST00000322910.9:c.708-7_708-6delinsTC	ENSP00000325395.5:n.708-7_708-6delinsTC
ENST00000350303.9:c.687-7_687-6delinsTC	ENSP00000344152.5:n.687-7_687-6delinsTC
ENST00000356839.9:c.753-7_753-6delinsTC	ENSP00000349297.5:n.753-7_753-6delinsTC
ENST00000543245.6:c.822-7_822-6delinsTC	ENSP00000438689.2:n.822-7_822-6delinsTC
ENST00000577191.5:n.918_919delinsTC
ENST00000581378.5:c.471-7_471-6delinsTC
ENST00000582379.1:n.137-7_137-6delinsTC
NM_000018.3:c.753-7_753-6delinsTC	NP_000009.1:n.753-7_753-6delinsTC
NM_001033859.2:c.687-7_687-6delinsTC	NP_001029031.1:n.687-7_687-6delinsTC
NM_001270447.1:c.822-7_822-6delinsTC	NP_001257376.1:n.822-7_822-6delinsTC
NM_001270448.1:c.525-7_525-6delinsTC	NP_001257377.1:n.525-7_525-6delinsTC
XM_006721516.2:c.753-7_753-6delinsTC	XP_006721579.2:n.753-7_753-6delinsTC
XM_011523829.1:c.753-7_753-6delinsTC	XP_011522131.1:n.753-7_753-6delinsTC
XM_011523830.1:c.753-7_753-6delinsTC	XP_011522132.1:n.753-7_753-6delinsTC
XR_934021.1:n.860-7_860-6delinsTC
XR_934022.1:n.860-7_860-6delinsTC
XR_934023.1:n.860-7_860-6delinsTC
XM_006721516.3:c.753-7_753-6delinsTC	XP_006721579.2:n.753-7_753-6delinsTC
XM_011523829.2:c.753-7_753-6delinsTC	XP_011522131.1:n.753-7_753-6delinsTC
XM_011523830.2:c.753-7_753-6delinsTC	XP_011522132.1:n.753-7_753-6delinsTC
XM_024450741.1:c.753-7_753-6delinsTC	XP_024306509.1:n.753-7_753-6delinsTC
XR_934021.2:n.812-7_812-6delinsTC
XR_934022.2:n.812-7_812-6delinsTC
XR_934023.2:n.812-7_812-6delinsTC
NM_000018.4:c.753-7_753-6delinsTC MANE Select	NP_000009.1:n.753-7_753-6delinsTC
NM_001033859.3:c.687-7_687-6delinsTC	NP_001029031.1:n.687-7_687-6delinsTC
NM_001270447.2:c.822-7_822-6delinsTC	NP_001257376.1:n.822-7_822-6delinsTC
NM_001270448.2:c.525-7_525-6delinsTC	NP_001257377.1:n.525-7_525-6delinsTC