Canonical Allele Identifier: CA2673310396

Gene: ANKH

Linked Data

• gnomAD v4: 5-14716561-C-CAG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716561_14716562insAG , CM000667.2:g.14716561_14716562insAG	GRCh38
NC_000005.9:g.14716670_14716671insAG , CM000667.1:g.14716670_14716671insAG	GRCh37
NC_000005.8:g.14769670_14769671insAG	NCBI36
NG_008273.1:g.160217_160218insCT
NG_008273.2:g.160224_160225insCT
NG_051625.1:g.60768_60769insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1141+144_1141+145insCT MANE Select	ENSP00000284268.6:n.1141+144_1141+145insCT
ENST00000284268.6:c.1141+144_1141+145insCT	ENSP00000284268.6:n.1141+144_1141+145insCT
ENST00000502585.1:n.383+144_383+145insCT
NM_054027.4:c.1141+144_1141+145insCT	NP_473368.1:n.1141+144_1141+145insCT
NM_054027.5:c.1141+144_1141+145insCT	NP_473368.1:n.1141+144_1141+145insCT
XM_017009644.2:c.1057+144_1057+145insCT	XP_016865133.1:n.1057+144_1057+145insCT
NM_054027.6:c.1141+144_1141+145insCT MANE Select	NP_473368.1:n.1141+144_1141+145insCT