Canonical Allele Identifier: CA1073452380
Gene: ANKH HGNC NCBI
OTULIN HGNC NCBI

Linked Data

dbSNP Id: rs1736961267
gnomAD v3: 5-14706862-T-TTTA
gnomAD v4: 5-14706862-T-TTTA
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14706862_14706863insTTA , CM000667.2:g.14706862_14706863insTTA GRCh38
NC_000005.9:g.14706971_14706972insTTA , CM000667.1:g.14706971_14706972insTTA GRCh37
NC_000005.8:g.14759971_14759972insTTA NCBI36
NG_008273.1:g.169916_169917insTAA
NG_008273.2:g.169923_169924insTAA
NG_051625.1:g.51069_51070insTTA

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.*4334_*4335insTAA (ANKH) MANE Select ENSP00000284268.6:n.*4334_*4335insTAA
ENST00000284268.6:c.*4334_*4335insTAA (ANKH) ENSP00000284268.6:n.*4334_*4335insTAA
NM_054027.4:c.*4334_*4335insTAA (ANKH) NP_473368.1:n.*4334_*4335insTAA
XM_011514151.1:c.*47-5860_*47-5859insTTA (OTULIN) XP_011512453.1:n.*47-5860_*47-5859insTTA
XM_011514152.1:c.*47-2076_*47-2075insTTA (OTULIN) XP_011512454.1:n.*47-2076_*47-2075insTTA
NM_054027.5:c.*4334_*4335insTAA (ANKH) NP_473368.1:n.*4334_*4335insTAA
XM_011514151.2:c.*47-5860_*47-5859insTTA (OTULIN) XP_011512453.1:n.*47-5860_*47-5859insTTA
XM_011514152.2:c.*47-2076_*47-2075insTTA (OTULIN) XP_011512454.1:n.*47-2076_*47-2075insTTA
NM_054027.6:c.*4334_*4335insTAA (ANKH) MANE Select NP_473368.1:n.*4334_*4335insTAA
Search 100 bp 5'
Search 100 bp 3'