Canonical Allele Identifier: CA10385813
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 1105631
ClinVar RCV Id: RCV001430075
dbSNP Id: rs759829103
ExAC: X:38229043 T / TTATA
gnomAD v2: X-38229043-T-TTATA
gnomAD v3: X-38369790-T-TTATA
gnomAD v4: X-38369790-T-TTATA
MyVariant Identifiers: chrX:g.38229043_38229044insTATA (hg19) chrX:g.38369790_38369791insTATA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369791_38369794dup , CM000685.2:g.38369791_38369794dup GRCh38
NC_000023.10:g.38229044_38229047dup , CM000685.1:g.38229044_38229047dup GRCh37
NC_000023.9:g.38113988_38113991dup NCBI36
NG_008471.1:g.22309_22312dup

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.217-5_217-2dup MANE Select ENSP00000039007.4:n.217-5_217-2dup
ENST00000643344.1:c.217-5_217-2dup ENSP00000496606.1:n.217-5_217-2dup
ENST00000039007.4:c.217-5_217-2dup ENSP00000039007.4:n.217-5_217-2dup
ENST00000465127.1:c.172-296330_172-296327dup ENSP00000417050.1:n.172-296330_172-296327...
ENST00000488812.1:n.309-5_309-2dup
NM_000531.5:c.217-5_217-2dup NP_000522.3:n.217-5_217-2dup
XM_017029556.1:c.217-5_217-2dup XP_016885045.1:n.217-5_217-2dup
NM_000531.6:c.217-5_217-2dup MANE Select NP_000522.3:n.217-5_217-2dup
Search 100 bp 5'
Search 100 bp 3'