Canonical Allele Identifier: CA805426502

Gene: ANKH

Linked Data

• dbSNP Id: rs1340125202
• gnomAD v4: 5-14871510-GAGGGGCGA-G
• MyVariant Identifiers: chr5:g.14871620_14871627del (hg19) ; chr5:g.14871511_14871518del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871511_14871518del , CM000667.2:g.14871511_14871518del	GRCh38
NC_000005.9:g.14871620_14871627del , CM000667.1:g.14871620_14871627del	GRCh37
NC_000005.8:g.14924620_14924627del	NCBI36
NG_008273.1:g.5261_5268del
NG_008273.2:g.5268_5275del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-71_-64del MANE Select	ENSP00000284268.6:n.-71_-64del
ENST00000284268.6:c.-71_-64del	ENSP00000284268.6:n.-71_-64del
ENST00000505140.1:c.-71_-64del	ENSP00000426332.1:n.-71_-64del
NM_054027.4:c.-71_-64del	NP_473368.1:n.-71_-64del
XM_011514067.1:c.-71_-64del	XP_011512369.1:n.-71_-64del
NM_054027.5:c.-71_-64del	NP_473368.1:n.-71_-64del
NM_054027.6:c.-71_-64del MANE Select	NP_473368.1:n.-71_-64del