Canonical Allele Identifier: CA1528880877
Gene: ANKH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716930_14716932delinsAAG , CM000667.2:g.14716930_14716932delinsAAG GRCh38
NC_000005.9:g.14717039_14717041delinsAAG , CM000667.1:g.14717039_14717041delinsAAG GRCh37
NC_000005.8:g.14770039_14770041delinsAAG NCBI36
NG_008273.1:g.159847_159849delinsCTT
NG_008273.2:g.159854_159856delinsCTT
NG_051625.1:g.61137_61139delinsAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1012-97_1012-95delinsCTT MANE Select ENSP00000284268.6:n.1012-97_1012-95delinsCTT
ENST00000284268.6:c.1012-97_1012-95delinsCTT ENSP00000284268.6:n.1012-97_1012-95delinsCTT
ENST00000502585.1:n.157_159delinsCTT
NM_054027.4:c.1012-97_1012-95delinsCTT NP_473368.1:n.1012-97_1012-95delinsCTT
NM_054027.5:c.1012-97_1012-95delinsCTT NP_473368.1:n.1012-97_1012-95delinsCTT
XM_017009644.2:c.928-97_928-95delinsCTT XP_016865133.1:n.928-97_928-95delinsCTT
NM_054027.6:c.1012-97_1012-95delinsCTT MANE Select NP_473368.1:n.1012-97_1012-95delinsCTT