Canonical Allele Identifier: CA1528949145
Gene: ANKH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871526_14871530delinsACGGG , CM000667.2:g.14871526_14871530delinsACGGG GRCh38
NC_000005.9:g.14871635_14871639delinsACGGG , CM000667.1:g.14871635_14871639delinsACGGG GRCh37
NC_000005.8:g.14924635_14924639delinsACGGG NCBI36
NG_008273.1:g.5249_5253delinsCCCGT
NG_008273.2:g.5256_5260delinsCCCGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.-83_-79delinsCCCGT MANE Select ENSP00000284268.6:n.-83_-79delinsCCCGT
ENST00000284268.6:c.-83_-79delinsCCCGT ENSP00000284268.6:n.-83_-79delinsCCCGT
ENST00000505140.1:c.-83_-79delinsCCCGT ENSP00000426332.1:n.-83_-79delinsCCCGT
NM_054027.4:c.-83_-79delinsCCCGT NP_473368.1:n.-83_-79delinsCCCGT
XM_011514067.1:c.-83_-79delinsCCCGT XP_011512369.1:n.-83_-79delinsCCCGT
NM_054027.5:c.-83_-79delinsCCCGT NP_473368.1:n.-83_-79delinsCCCGT
NM_054027.6:c.-83_-79delinsCCCGT MANE Select NP_473368.1:n.-83_-79delinsCCCGT