Canonical Allele Identifier: CA557887450
Gene: ANKH HGNC NCBI
OTULIN HGNC NCBI

Linked Data

dbSNP Id: rs372301335
gnomAD v2: 5-14716601-C-CAATAAATAAATA
gnomAD v3: 5-14716492-C-CAATAAATAAATA
gnomAD v4: 5-14716492-C-CAATAAATAAATA
MyVariant Identifiers: chr5:g.14716605_14716606insAATAAATAAATA (hg19) chr5:g.14716601_14716602insAATAAATAAATA (hg19) chr5:g.14716496_14716497insAATAAATAAATA (hg38) chr5:g.14716492_14716493insAATAAATAAATA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716507_14716518dup , CM000667.2:g.14716507_14716518dup GRCh38
NC_000005.9:g.14716616_14716627dup , CM000667.1:g.14716616_14716627dup GRCh37
NC_000005.8:g.14769616_14769627dup NCBI36
NG_008273.1:g.160275_160286dup
NG_008273.2:g.160282_160293dup
NG_051625.1:g.60714_60725dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1141+202_1141+213dup (ANKH) MANE Select ENSP00000284268.6:n.1141+202_1141+213dup
ENST00000284268.6:c.1141+202_1141+213dup (ANKH) ENSP00000284268.6:n.1141+202_1141+213dup
ENST00000502585.1:n.383+202_383+213dup (ANKH)
NM_054027.4:c.1141+202_1141+213dup (ANKH) NP_473368.1:n.1141+202_1141+213dup
NR_046285.1:n.2577_2588dup
NM_054027.5:c.1141+202_1141+213dup (ANKH) NP_473368.1:n.1141+202_1141+213dup
XM_011514151.2:c.*3832_*3843dup (OTULIN) XP_011512453.1:n.*3832_*3843dup
XM_017009644.2:c.1057+202_1057+213dup (ANKH) XP_016865133.1:n.1057+202_1057+213dup
NM_054027.6:c.1141+202_1141+213dup (ANKH) MANE Select NP_473368.1:n.1141+202_1141+213dup
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