Canonical Allele Identifier: CA2673314993

Gene: ANKH

Linked Data

• gnomAD v4: 5-14871699-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871699_14871700insA , CM000667.2:g.14871699_14871700insA	GRCh38
NC_000005.9:g.14871808_14871809insA , CM000667.1:g.14871808_14871809insA	GRCh37
NC_000005.8:g.14924808_14924809insA	NCBI36
NG_008273.1:g.5079_5080insT
NG_008273.2:g.5086_5087insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-253_-252insT MANE Select	ENSP00000284268.6:n.-253_-252insT
ENST00000284268.6:c.-253_-252insT	ENSP00000284268.6:n.-253_-252insT
ENST00000505140.1:c.-253_-252insT	ENSP00000426332.1:n.-253_-252insT
NM_054027.4:c.-253_-252insT	NP_473368.1:n.-253_-252insT
XM_011514067.1:c.-253_-252insT	XP_011512369.1:n.-253_-252insT
NM_054027.5:c.-253_-252insT	NP_473368.1:n.-253_-252insT
NM_054027.6:c.-253_-252insT MANE Select	NP_473368.1:n.-253_-252insT