Canonical Allele Identifier: CA1528949199

Gene: ANKH

Linked Data

• dbSNP Id: rs1735830001
• gnomAD v4: 5-14871561-GGGCGGCGGGGCCTCGGGCGCGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871570_14871592del , CM000667.2:g.14871570_14871592del	GRCh38
NC_000005.9:g.14871679_14871701del , CM000667.1:g.14871679_14871701del	GRCh37
NC_000005.8:g.14924679_14924701del	NCBI36
NG_008273.1:g.5195_5217del
NG_008273.2:g.5202_5224del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-137_-115del MANE Select	ENSP00000284268.6:n.-137_-115del
ENST00000284268.6:c.-137_-115del	ENSP00000284268.6:n.-137_-115del
ENST00000505140.1:c.-137_-115del	ENSP00000426332.1:n.-137_-115del
NM_054027.4:c.-137_-115del	NP_473368.1:n.-137_-115del
XM_011514067.1:c.-137_-115del	XP_011512369.1:n.-137_-115del
NM_054027.5:c.-137_-115del	NP_473368.1:n.-137_-115del
NM_054027.6:c.-137_-115del MANE Select	NP_473368.1:n.-137_-115del