Canonical Allele Identifier: CA202717

Gene: OTC

Linked Data

• ClinVar Variation Id: 197154
• ClinVar RCV Id: RCV000178112 ; RCV001699143 ; RCV001510338
• dbSNP Id: rs764551624
• ExAC: X:38240577 CT / C
• gnomAD v2: X-38240577-CT-C
• gnomAD v3: X-38381324-CT-C
• gnomAD v4: X-38381324-CT-C
• COSMIC: COSN15665164 ; COSN17153237
• MyVariant Identifiers: chrX:g.38240587del (hg19) ; chrX:g.38240579del (hg19) ; chrX:g.38240578del (hg19) ; chrX:g.38240587delT (hg19) ; chrX:g.38381334del (hg38) ; chrX:g.38381325del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38381334del , CM000685.2:g.38381334del	GRCh38
NC_000023.10:g.38240587del , CM000685.1:g.38240587del	GRCh37
NC_000023.9:g.38125531del	NCBI36
NG_008471.1:g.33852del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.299-8del MANE Select	ENSP00000039007.4:n.299-8del
ENST00000643344.1:c.*49-8del	ENSP00000496606.1:n.*49-8del
ENST00000039007.4:c.299-8del	ENSP00000039007.4:n.299-8del
ENST00000465127.1:c.172-284787del	ENSP00000417050.1:n.172-284787del
ENST00000488812.1:n.354-26del
NM_000531.5:c.299-8del	NP_000522.3:n.299-8del
XM_017029556.1:c.299-8del	XP_016885045.1:n.299-8del
NM_000531.6:c.299-8del MANE Select	NP_000522.3:n.299-8del