Canonical Allele Identifier: CA1528949295

Gene: ANKH

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871700_14871701delinsGA , CM000667.2:g.14871700_14871701delinsGA	GRCh38
NC_000005.9:g.14871809_14871810delinsGA , CM000667.1:g.14871809_14871810delinsGA	GRCh37
NC_000005.8:g.14924809_14924810delinsGA	NCBI36
NG_008273.1:g.5078_5079delinsTC
NG_008273.2:g.5085_5086delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-254_-253delinsTC MANE Select	ENSP00000284268.6:n.-254_-253delinsTC
ENST00000284268.6:c.-254_-253delinsTC	ENSP00000284268.6:n.-254_-253delinsTC
ENST00000505140.1:c.-254_-253delinsTC	ENSP00000426332.1:n.-254_-253delinsTC
NM_054027.4:c.-254_-253delinsTC	NP_473368.1:n.-254_-253delinsTC
XM_011514067.1:c.-254_-253delinsTC	XP_011512369.1:n.-254_-253delinsTC
NM_054027.5:c.-254_-253delinsTC	NP_473368.1:n.-254_-253delinsTC
NM_054027.6:c.-254_-253delinsTC MANE Select	NP_473368.1:n.-254_-253delinsTC