Canonical Allele Identifier: CA1528949130

Gene: ANKH

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871518_14871525delinsACGGGGCG , CM000667.2:g.14871518_14871525delinsACGGGGCG	GRCh38
NC_000005.9:g.14871627_14871634delinsACGGGGCG , CM000667.1:g.14871627_14871634delinsACGGGGCG	GRCh37
NC_000005.8:g.14924627_14924634delinsACGGGGCG	NCBI36
NG_008273.1:g.5254_5261delinsCGCCCCGT
NG_008273.2:g.5261_5268delinsCGCCCCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-78_-71delinsCGCCCCGT MANE Select	ENSP00000284268.6:n.-78_-71delinsCGCCCCGT
ENST00000284268.6:c.-78_-71delinsCGCCCCGT	ENSP00000284268.6:n.-78_-71delinsCGCCCCGT
ENST00000505140.1:c.-78_-71delinsCGCCCCGT	ENSP00000426332.1:n.-78_-71delinsCGCCCCGT
NM_054027.4:c.-78_-71delinsCGCCCCGT	NP_473368.1:n.-78_-71delinsCGCCCCGT
XM_011514067.1:c.-78_-71delinsCGCCCCGT	XP_011512369.1:n.-78_-71delinsCGCCCCGT
NM_054027.5:c.-78_-71delinsCGCCCCGT	NP_473368.1:n.-78_-71delinsCGCCCCGT
NM_054027.6:c.-78_-71delinsCGCCCCGT MANE Select	NP_473368.1:n.-78_-71delinsCGCCCCGT