Canonical Allele Identifier: CA10623033
Gene: ANKH HGNC NCBI
OTULIN HGNC NCBI

Linked Data

ClinVar Variation Id: 351460
ClinVar RCV Id: RCV000307041 RCV000364087
dbSNP Id: rs201158874
gnomAD v2: 5-14709418-A-AT
gnomAD v3: 5-14709309-A-AT
gnomAD v4: 5-14709309-A-AT
MyVariant Identifiers: chr5:g.14709419dupT (hg19) chr5:g.14709419_14709420insT (hg19) chr5:g.14709418_14709419insT (hg19) chr5:g.14709310dupT (hg38) chr5:g.14709310_14709311insT (hg38) chr5:g.14709309_14709310insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14709318dup , CM000667.2:g.14709318dup GRCh38
NC_000005.9:g.14709427dup , CM000667.1:g.14709427dup GRCh37
NC_000005.8:g.14762427dup NCBI36
NG_008273.1:g.167469dup
NG_008273.2:g.167476dup
NG_051625.1:g.53525dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.*1887dup (ANKH) MANE Select ENSP00000284268.6:n.*1887dup
ENST00000284268.6:c.*1887dup (ANKH) ENSP00000284268.6:n.*1887dup
NM_054027.4:c.*1887dup (ANKH) NP_473368.1:n.*1887dup
XM_011514151.1:c.*47-3404dup (OTULIN) XP_011512453.1:n.*47-3404dup
NM_054027.5:c.*1887dup (ANKH) NP_473368.1:n.*1887dup
XM_011514151.2:c.*47-3404dup (OTULIN) XP_011512453.1:n.*47-3404dup
NM_054027.6:c.*1887dup (ANKH) MANE Select NP_473368.1:n.*1887dup
Search 100 bp 5'
Search 100 bp 3'