Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222154_7222155del , CM000679.2:g.7222154_7222155del	GRCh38
NC_000017.10:g.7125473_7125474del , CM000679.1:g.7125473_7125474del	GRCh37
NC_000017.9:g.7066197_7066198del	NCBI36
NG_007975.1:g.7321_7322del
NG_008391.2:g.2896_2897del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.753-23_753-22del MANE Select	ENSP00000349297.5:n.753-23_753-22del
ENST00000322910.9:c.708-23_708-22del	ENSP00000325395.5:n.708-23_708-22del
ENST00000350303.9:c.687-23_687-22del	ENSP00000344152.5:n.687-23_687-22del
ENST00000356839.9:c.753-23_753-22del	ENSP00000349297.5:n.753-23_753-22del
ENST00000543245.6:c.822-23_822-22del	ENSP00000438689.2:n.822-23_822-22del
ENST00000577191.5:n.902_903del
ENST00000581378.5:c.471-23_471-22del
ENST00000582379.1:n.137-23_137-22del
NM_000018.3:c.753-23_753-22del	NP_000009.1:n.753-23_753-22del
NM_001033859.2:c.687-23_687-22del	NP_001029031.1:n.687-23_687-22del
NM_001270447.1:c.822-23_822-22del	NP_001257376.1:n.822-23_822-22del
NM_001270448.1:c.525-23_525-22del	NP_001257377.1:n.525-23_525-22del
XM_006721516.2:c.753-23_753-22del	XP_006721579.2:n.753-23_753-22del
XM_011523829.1:c.753-23_753-22del	XP_011522131.1:n.753-23_753-22del
XM_011523830.1:c.753-23_753-22del	XP_011522132.1:n.753-23_753-22del
XR_934021.1:n.860-23_860-22del
XR_934022.1:n.860-23_860-22del
XR_934023.1:n.860-23_860-22del
XM_006721516.3:c.753-23_753-22del	XP_006721579.2:n.753-23_753-22del
XM_011523829.2:c.753-23_753-22del	XP_011522131.1:n.753-23_753-22del
XM_011523830.2:c.753-23_753-22del	XP_011522132.1:n.753-23_753-22del
XM_024450741.1:c.753-23_753-22del	XP_024306509.1:n.753-23_753-22del
XR_934021.2:n.812-23_812-22del
XR_934022.2:n.812-23_812-22del
XR_934023.2:n.812-23_812-22del
NM_000018.4:c.753-23_753-22del MANE Select	NP_000009.1:n.753-23_753-22del
NM_001033859.3:c.687-23_687-22del	NP_001029031.1:n.687-23_687-22del
NM_001270447.2:c.822-23_822-22del	NP_001257376.1:n.822-23_822-22del
NM_001270448.2:c.525-23_525-22del	NP_001257377.1:n.525-23_525-22del