Canonical Allele Identifier: CA10623173
Gene: ANKH HGNC NCBI
OTULIN HGNC NCBI

Linked Data

ClinVar Variation Id: 351449
ClinVar RCV Id: RCV000334888 RCV000403694
dbSNP Id: rs796083754
gnomAD v2: 5-14709004-A-AT
gnomAD v3: 5-14708895-A-AT
gnomAD v4: 5-14708895-A-AT
COSMIC: COSN18922092
MyVariant Identifiers: chr5:g.14709005dupT (hg19) chr5:g.14709008_14709009insT (hg19) chr5:g.14709004_14709005insT (hg19) chr5:g.14708896dupT (hg38) chr5:g.14708899_14708900insT (hg38) chr5:g.14708895_14708896insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14708909dup , CM000667.2:g.14708909dup GRCh38
NC_000005.9:g.14709018dup , CM000667.1:g.14709018dup GRCh37
NC_000005.8:g.14762018dup NCBI36
NG_008273.1:g.167883dup
NG_008273.2:g.167890dup
NG_051625.1:g.53116dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.*2301dup (ANKH) MANE Select ENSP00000284268.6:n.*2301dup
ENST00000284268.6:c.*2301dup (ANKH) ENSP00000284268.6:n.*2301dup
NM_054027.4:c.*2301dup (ANKH) NP_473368.1:n.*2301dup
XM_011514151.1:c.*47-3813dup (OTULIN) XP_011512453.1:n.*47-3813dup
XM_011514152.1:c.*47-29dup (OTULIN) XP_011512454.1:n.*47-29dup
NM_054027.5:c.*2301dup (ANKH) NP_473368.1:n.*2301dup
XM_011514151.2:c.*47-3813dup (OTULIN) XP_011512453.1:n.*47-3813dup
XM_011514152.2:c.*47-29dup (OTULIN) XP_011512454.1:n.*47-29dup
NM_054027.6:c.*2301dup (ANKH) MANE Select NP_473368.1:n.*2301dup
Search 100 bp 5'
Search 100 bp 3'