Canonical Allele Identifier: CA805426604

Gene: ANKH

Linked Data

• dbSNP Id: rs1399647490
• gnomAD v3: 5-14871582-GGCGGCGGCGGCTCCTCCTC-G
• gnomAD v4: 5-14871582-GGCGGCGGCGGCTCCTCCTC-G
• MyVariant Identifiers: chr5:g.14871692_14871710del (hg19) ; chr5:g.14871583_14871601del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871588_14871606del , CM000667.2:g.14871588_14871606del	GRCh38
NC_000005.9:g.14871697_14871715del , CM000667.1:g.14871697_14871715del	GRCh37
NC_000005.8:g.14924697_14924715del	NCBI36
NG_008273.1:g.5178_5196del
NG_008273.2:g.5185_5203del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-154_-136del MANE Select	ENSP00000284268.6:n.-154_-136del
ENST00000284268.6:c.-154_-136del	ENSP00000284268.6:n.-154_-136del
ENST00000505140.1:c.-154_-136del	ENSP00000426332.1:n.-154_-136del
NM_054027.4:c.-154_-136del	NP_473368.1:n.-154_-136del
XM_011514067.1:c.-154_-136del	XP_011512369.1:n.-154_-136del
NM_054027.5:c.-154_-136del	NP_473368.1:n.-154_-136del
NM_054027.6:c.-154_-136del MANE Select	NP_473368.1:n.-154_-136del