Canonical Allele Identifier: CA1528880871
Gene: ANKH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716925_14716932delinsTACGAAAG , CM000667.2:g.14716925_14716932delinsTACGAAAG GRCh38
NC_000005.9:g.14717034_14717041delinsTACGAAAG , CM000667.1:g.14717034_14717041delinsTACGAAAG GRCh37
NC_000005.8:g.14770034_14770041delinsTACGAAAG NCBI36
NG_008273.1:g.159847_159854delinsCTTTCGTA
NG_008273.2:g.159854_159861delinsCTTTCGTA
NG_051625.1:g.61132_61139delinsTACGAAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1012-97_1012-90delinsCTTTCGTA MANE Select ENSP00000284268.6:n.1012-97_1012-90delinsCTTTCGTA
ENST00000284268.6:c.1012-97_1012-90delinsCTTTCGTA ENSP00000284268.6:n.1012-97_1012-90delinsCTTTCGTA
ENST00000502585.1:n.157_164delinsCTTTCGTA
NM_054027.4:c.1012-97_1012-90delinsCTTTCGTA NP_473368.1:n.1012-97_1012-90delinsCTTTCGTA
NM_054027.5:c.1012-97_1012-90delinsCTTTCGTA NP_473368.1:n.1012-97_1012-90delinsCTTTCGTA
XM_017009644.2:c.928-97_928-90delinsCTTTCGTA XP_016865133.1:n.928-97_928-90delinsCTTTCGTA
NM_054027.6:c.1012-97_1012-90delinsCTTTCGTA MANE Select NP_473368.1:n.1012-97_1012-90delinsCTTTCGTA
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