Canonical Allele Identifier: CA2573158797

Gene: OTC

Linked Data

• ClinVar Variation Id: 1566829
• ClinVar RCV Id: RCV002207614
• dbSNP Id: rs2147342809

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38403747_38403750delinsTGCA , CM000685.2:g.38403747_38403750delinsTGCA	GRCh38
NC_000023.10:g.38263000_38263003delinsTGCA , CM000685.1:g.38263000_38263003delinsTGCA	GRCh37
NC_000023.9:g.38147944_38147947delinsTGCA	NCBI36
NG_008471.1:g.56265_56268delinsTGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.663+7_663+10delinsTGCA MANE Select	ENSP00000039007.4:n.663+7_663+10delinsTGCA
ENST00000643344.1:c.*413+7_*413+10delinsTGCA	ENSP00000496606.1:n.*413+7_*413+10delinsTGCA
ENST00000039007.4:c.663+7_663+10delinsTGCA	ENSP00000039007.4:n.663+7_663+10delinsTGCA
ENST00000465127.1:c.172-262374_172-262371delinsTGCA	ENSP00000417050.1:n.172-262374_172-262371delinsTGCA
NM_000531.5:c.663+7_663+10delinsTGCA	NP_000522.3:n.663+7_663+10delinsTGCA
XM_017029556.1:c.663+7_663+10delinsTGCA	XP_016885045.1:n.663+7_663+10delinsTGCA
NM_000531.6:c.663+7_663+10delinsTGCA MANE Select	NP_000522.3:n.663+7_663+10delinsTGCA