Canonical Allele Identifier: CA10619353
Gene: ANKH HGNC NCBI

Linked Data

ClinVar Variation Id: 351928
ClinVar RCV Id: RCV000322863 RCV000379550
dbSNP Id: rs886060201
gnomAD v2: 5-14871635-A-AG
gnomAD v3: 5-14871526-A-AG
gnomAD v4: 5-14871526-A-AG
MyVariant Identifiers: chr5:g.14871635_14871636insG (hg19) chr5:g.14871636_14871641delinsGCGGGGC (hg19) chr5:g.14871526_14871527insG (hg38) chr5:g.14871527_14871532delinsGCGGGGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871526_14871527insG , CM000667.2:g.14871526_14871527insG GRCh38
NC_000005.9:g.14871635_14871636insG , CM000667.1:g.14871635_14871636insG GRCh37
NC_000005.8:g.14924635_14924636insG NCBI36
NG_008273.1:g.5252_5253insC
NG_008273.2:g.5259_5260insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.-80_-79insC MANE Select ENSP00000284268.6:n.-80_-79insC
ENST00000284268.6:c.-80_-79insC ENSP00000284268.6:n.-80_-79insC
ENST00000505140.1:c.-80_-79insC ENSP00000426332.1:n.-80_-79insC
NM_054027.4:c.-80_-79insC NP_473368.1:n.-80_-79insC
XM_011514067.1:c.-80_-79insC XP_011512369.1:n.-80_-79insC
NM_054027.5:c.-80_-79insC NP_473368.1:n.-80_-79insC
NM_054027.6:c.-80_-79insC MANE Select NP_473368.1:n.-80_-79insC
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