Canonical Allele Identifier: CA10623140
Gene: ANKH HGNC NCBI
OTULIN HGNC NCBI

Linked Data

ClinVar Variation Id: 351395
ClinVar RCV Id: RCV000279222 RCV000402881
dbSNP Id: rs765143871
gnomAD v2: 5-14705393-TA-T
gnomAD v3: 5-14705284-TA-T
gnomAD v4: 5-14705284-TA-T
MyVariant Identifiers: chr5:g.14705394del (hg19) chr5:g.14705285del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14705297del , CM000667.2:g.14705297del GRCh38
NC_000005.9:g.14705406del , CM000667.1:g.14705406del GRCh37
NC_000005.8:g.14758406del NCBI36
NG_008273.1:g.171494del
NG_008273.2:g.171501del
NG_051625.1:g.49504del

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.*5912del (ANKH) MANE Select ENSP00000284268.6:n.*5912del
ENST00000284268.6:c.*5912del (ANKH) ENSP00000284268.6:n.*5912del
NM_054027.4:c.*5912del (ANKH) NP_473368.1:n.*5912del
XM_011514151.1:c.*47-7425del (OTULIN) XP_011512453.1:n.*47-7425del
XM_011514152.1:c.*47-3641del (OTULIN) XP_011512454.1:n.*47-3641del
NM_054027.5:c.*5912del (ANKH) NP_473368.1:n.*5912del
XM_011514151.2:c.*47-7425del (OTULIN) XP_011512453.1:n.*47-7425del
XM_011514152.2:c.*47-3641del (OTULIN) XP_011512454.1:n.*47-3641del
NM_054027.6:c.*5912del (ANKH) MANE Select NP_473368.1:n.*5912del
Search 100 bp 5'
Search 100 bp 3'