Canonical Allele Identifier: CA2673314746

Gene: ANKH

Linked Data

• gnomAD v4: 5-14871518-ACGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871519_14871522del , CM000667.2:g.14871519_14871522del	GRCh38
NC_000005.9:g.14871628_14871631del , CM000667.1:g.14871628_14871631del	GRCh37
NC_000005.8:g.14924628_14924631del	NCBI36
NG_008273.1:g.5257_5260del
NG_008273.2:g.5264_5267del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-75_-72del MANE Select	ENSP00000284268.6:n.-75_-72del
ENST00000284268.6:c.-75_-72del	ENSP00000284268.6:n.-75_-72del
ENST00000505140.1:c.-75_-72del	ENSP00000426332.1:n.-75_-72del
NM_054027.4:c.-75_-72del	NP_473368.1:n.-75_-72del
XM_011514067.1:c.-75_-72del	XP_011512369.1:n.-75_-72del
NM_054027.5:c.-75_-72del	NP_473368.1:n.-75_-72del
NM_054027.6:c.-75_-72del MANE Select	NP_473368.1:n.-75_-72del