Canonical Allele Identifier: CA1528949147

Gene: ANKH

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871526_14871535delinsACGGGGCGAG , CM000667.2:g.14871526_14871535delinsACGGGGCGAG	GRCh38
NC_000005.9:g.14871635_14871644delinsACGGGGCGAG , CM000667.1:g.14871635_14871644delinsACGGGGCGAG	GRCh37
NC_000005.8:g.14924635_14924644delinsACGGGGCGAG	NCBI36
NG_008273.1:g.5244_5253delinsCTCGCCCCGT
NG_008273.2:g.5251_5260delinsCTCGCCCCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-88_-79delinsCTCGCCCCGT MANE Select	ENSP00000284268.6:n.-88_-79delinsCTCGCCCCGT
ENST00000284268.6:c.-88_-79delinsCTCGCCCCGT	ENSP00000284268.6:n.-88_-79delinsCTCGCCCCGT
ENST00000505140.1:c.-88_-79delinsCTCGCCCCGT	ENSP00000426332.1:n.-88_-79delinsCTCGCCCCGT
NM_054027.4:c.-88_-79delinsCTCGCCCCGT	NP_473368.1:n.-88_-79delinsCTCGCCCCGT
XM_011514067.1:c.-88_-79delinsCTCGCCCCGT	XP_011512369.1:n.-88_-79delinsCTCGCCCCGT
NM_054027.5:c.-88_-79delinsCTCGCCCCGT	NP_473368.1:n.-88_-79delinsCTCGCCCCGT
NM_054027.6:c.-88_-79delinsCTCGCCCCGT MANE Select	NP_473368.1:n.-88_-79delinsCTCGCCCCGT