Canonical Allele Identifier: CA1528880793
Gene: ANKH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716775_14716778delinsCGAT , CM000667.2:g.14716775_14716778delinsCGAT GRCh38
NC_000005.9:g.14716884_14716887delinsCGAT , CM000667.1:g.14716884_14716887delinsCGAT GRCh37
NC_000005.8:g.14769884_14769887delinsCGAT NCBI36
NG_008273.1:g.160001_160004delinsATCG
NG_008273.2:g.160008_160011delinsATCG
NG_051625.1:g.60982_60985delinsCGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1069_1072delinsATCG MANE Select ENSP00000284268.6:p.Ile357=
ENST00000284268.6:c.1069_1072delinsATCG ENSP00000284268.6:p.Ile357=
ENST00000502585.1:n.311_314delinsATCG
NM_054027.4:c.1069_1072delinsATCG NP_473368.1:p.Ile357=
NM_054027.5:c.1069_1072delinsATCG NP_473368.1:p.Ile357=
XM_017009644.2:c.985_988delinsATCG XP_016865133.1:p.Ile329=
NM_054027.6:c.1069_1072delinsATCG MANE Select NP_473368.1:p.Ile357=
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