Canonical Allele Identifier: CA875145077

Gene: OTC

Linked Data

• dbSNP Id: rs1262331944
• gnomAD v3: X-38370210-C-CCTTT
• gnomAD v4: X-38370210-C-CCTTT
• MyVariant Identifiers: chrX:g.38229463_38229464insCTTT (hg19) ; chrX:g.38370210_38370211insCTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38370210_38370211insCTTT , CM000685.2:g.38370210_38370211insCTTT	GRCh38
NC_000023.10:g.38229463_38229464insCTTT , CM000685.1:g.38229463_38229464insCTTT	GRCh37
NC_000023.9:g.38114407_38114408insCTTT	NCBI36
NG_008471.1:g.22728_22729insCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.298+333_298+334insCTTT MANE Select	ENSP00000039007.4:n.298+333_298+334insCTTT
ENST00000643344.1:c.298+333_298+334insCTTT	ENSP00000496606.1:n.298+333_298+334insCTTT
ENST00000039007.4:c.298+333_298+334insCTTT	ENSP00000039007.4:n.298+333_298+334insCTTT
ENST00000465127.1:c.172-295911_172-295910insCTTT	ENSP00000417050.1:n.172-295911_172-295910insCTTT
ENST00000488812.1:n.353+370_353+371insCTTT
NM_000531.5:c.298+333_298+334insCTTT	NP_000522.3:n.298+333_298+334insCTTT
XM_017029556.1:c.298+333_298+334insCTTT	XP_016885045.1:n.298+333_298+334insCTTT
NM_000531.6:c.298+333_298+334insCTTT MANE Select	NP_000522.3:n.298+333_298+334insCTTT