Canonical Allele Identifier: CA1528949134

Gene: ANKH

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871519_14871525delinsCGGGGCG , CM000667.2:g.14871519_14871525delinsCGGGGCG	GRCh38
NC_000005.9:g.14871628_14871634delinsCGGGGCG , CM000667.1:g.14871628_14871634delinsCGGGGCG	GRCh37
NC_000005.8:g.14924628_14924634delinsCGGGGCG	NCBI36
NG_008273.1:g.5254_5260delinsCGCCCCG
NG_008273.2:g.5261_5267delinsCGCCCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-78_-72delinsCGCCCCG MANE Select	ENSP00000284268.6:n.-78_-72delinsCGCCCCG
ENST00000284268.6:c.-78_-72delinsCGCCCCG	ENSP00000284268.6:n.-78_-72delinsCGCCCCG
ENST00000505140.1:c.-78_-72delinsCGCCCCG	ENSP00000426332.1:n.-78_-72delinsCGCCCCG
NM_054027.4:c.-78_-72delinsCGCCCCG	NP_473368.1:n.-78_-72delinsCGCCCCG
XM_011514067.1:c.-78_-72delinsCGCCCCG	XP_011512369.1:n.-78_-72delinsCGCCCCG
NM_054027.5:c.-78_-72delinsCGCCCCG	NP_473368.1:n.-78_-72delinsCGCCCCG
NM_054027.6:c.-78_-72delinsCGCCCCG MANE Select	NP_473368.1:n.-78_-72delinsCGCCCCG