Canonical Allele Identifier: CA10623251

Gene: ANKH

Linked Data

• ClinVar Variation Id: 351929
• ClinVar RCV Id: RCV000264149 ; RCV000321585
• dbSNP Id: rs886060202
• MyVariant Identifiers: chr5:g.14871636_14871645delinsGA (hg19) ; chr5:g.14871527_14871536delinsGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871527_14871536delinsGA , CM000667.2:g.14871527_14871536delinsGA	GRCh38
NC_000005.9:g.14871636_14871645delinsGA , CM000667.1:g.14871636_14871645delinsGA	GRCh37
NC_000005.8:g.14924636_14924645delinsGA	NCBI36
NG_008273.1:g.5243_5252delinsTC
NG_008273.2:g.5250_5259delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-89_-80delinsTC MANE Select	ENSP00000284268.6:n.-89_-80delinsTC
ENST00000284268.6:c.-89_-80delinsTC	ENSP00000284268.6:n.-89_-80delinsTC
ENST00000505140.1:c.-89_-80delinsTC	ENSP00000426332.1:n.-89_-80delinsTC
NM_054027.4:c.-89_-80delinsTC	NP_473368.1:n.-89_-80delinsTC
XM_011514067.1:c.-89_-80delinsTC	XP_011512369.1:n.-89_-80delinsTC
NM_054027.5:c.-89_-80delinsTC	NP_473368.1:n.-89_-80delinsTC
NM_054027.6:c.-89_-80delinsTC MANE Select	NP_473368.1:n.-89_-80delinsTC