Canonical Allele Identifier: CA1528949148

Gene: ANKH

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871526_14871532delinsACGGGGC , CM000667.2:g.14871526_14871532delinsACGGGGC	GRCh38
NC_000005.9:g.14871635_14871641delinsACGGGGC , CM000667.1:g.14871635_14871641delinsACGGGGC	GRCh37
NC_000005.8:g.14924635_14924641delinsACGGGGC	NCBI36
NG_008273.1:g.5247_5253delinsGCCCCGT
NG_008273.2:g.5254_5260delinsGCCCCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-85_-79delinsGCCCCGT MANE Select	ENSP00000284268.6:n.-85_-79delinsGCCCCGT
ENST00000284268.6:c.-85_-79delinsGCCCCGT	ENSP00000284268.6:n.-85_-79delinsGCCCCGT
ENST00000505140.1:c.-85_-79delinsGCCCCGT	ENSP00000426332.1:n.-85_-79delinsGCCCCGT
NM_054027.4:c.-85_-79delinsGCCCCGT	NP_473368.1:n.-85_-79delinsGCCCCGT
XM_011514067.1:c.-85_-79delinsGCCCCGT	XP_011512369.1:n.-85_-79delinsGCCCCGT
NM_054027.5:c.-85_-79delinsGCCCCGT	NP_473368.1:n.-85_-79delinsGCCCCGT
NM_054027.6:c.-85_-79delinsGCCCCGT MANE Select	NP_473368.1:n.-85_-79delinsGCCCCGT