Canonical Allele Identifier: CA2695233323

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38408938_38408939insCAGGCAGTGT , CM000685.2:g.38408938_38408939insCAGGCAGTGT	GRCh38
NC_000023.10:g.38268191_38268192insCAGGCAGTGT , CM000685.1:g.38268191_38268192insCAGGCAGTGT	GRCh37
NC_000023.9:g.38153135_38153136insCAGGCAGTGT	NCBI36
NG_008471.1:g.61456_61457insCAGGCAGTGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.780_781insCAGGCAGTGT MANE Select	ENSP00000039007.4:p.Ile261GlnfsTer?
ENST00000643344.1:c.*530_*531insCAGGCAGTGT	ENSP00000496606.1:n.*530_*531insCAGGCAGTG...
ENST00000039007.4:c.780_781insCAGGCAGTGT	ENSP00000039007.4:p.Ile261GlnfsTer?
ENST00000465127.1:c.172-257183_172-257182insCAGGCAGTGT	ENSP00000417050.1:n.172-257183_172-257182...
NM_000531.5:c.780_781insCAGGCAGTGT	NP_000522.3:p.Ile261GlnfsTer?
XM_017029556.1:c.780_781insCAGGCAGTGT	XP_016885045.1:p.Ile261GlnfsTer?
NM_000531.6:c.780_781insCAGGCAGTGT MANE Select	NP_000522.3:p.Ile261GlnfsTer?