Canonical Allele Identifier: CA558016039

Gene: ANKH

Linked Data

• dbSNP Id: rs1735828394
• gnomAD v2: 5-14871643-AGCGGGGCGC-A
• gnomAD v4: 5-14871534-AGCGGGGCGC-A
• MyVariant Identifiers: chr5:g.14871644_14871652del (hg19) ; chr5:g.14871535_14871543del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871536_14871544del , CM000667.2:g.14871536_14871544del	GRCh38
NC_000005.9:g.14871645_14871653del , CM000667.1:g.14871645_14871653del	GRCh37
NC_000005.8:g.14924645_14924653del	NCBI36
NG_008273.1:g.5236_5244del
NG_008273.2:g.5243_5251del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-96_-88del MANE Select	ENSP00000284268.6:n.-96_-88del
ENST00000284268.6:c.-96_-88del	ENSP00000284268.6:n.-96_-88del
ENST00000505140.1:c.-96_-88del	ENSP00000426332.1:n.-96_-88del
NM_054027.4:c.-96_-88del	NP_473368.1:n.-96_-88del
XM_011514067.1:c.-96_-88del	XP_011512369.1:n.-96_-88del
NM_054027.5:c.-96_-88del	NP_473368.1:n.-96_-88del
NM_054027.6:c.-96_-88del MANE Select	NP_473368.1:n.-96_-88del