Canonical Allele Identifier: CA2765371451
Gene: ANKH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716930_14716933dup , CM000667.2:g.14716930_14716933dup GRCh38
NC_000005.9:g.14717039_14717042dup , CM000667.1:g.14717039_14717042dup GRCh37
NC_000005.8:g.14770039_14770042dup NCBI36
NG_008273.1:g.159848_159851dup
NG_008273.2:g.159855_159858dup
NG_051625.1:g.61137_61140dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1012-96_1012-93dup MANE Select ENSP00000284268.6:n.1012-96_1012-93dup
ENST00000284268.6:c.1012-96_1012-93dup ENSP00000284268.6:n.1012-96_1012-93dup
ENST00000502585.1:n.158_161dup
NM_054027.4:c.1012-96_1012-93dup NP_473368.1:n.1012-96_1012-93dup
NM_054027.5:c.1012-96_1012-93dup NP_473368.1:n.1012-96_1012-93dup
XM_017009644.2:c.928-96_928-93dup XP_016865133.1:n.928-96_928-93dup
NM_054027.6:c.1012-96_1012-93dup MANE Select NP_473368.1:n.1012-96_1012-93dup