Canonical Allele Identifier: CA2424882661
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403537_38403541delinsCTATT , CM000685.2:g.38403537_38403541delinsCTATT GRCh38
NC_000023.10:g.38262790_38262794delinsCTATT , CM000685.1:g.38262790_38262794delinsCTATT GRCh37
NC_000023.9:g.38147734_38147738delinsCTATT NCBI36
NG_008471.1:g.56055_56059delinsCTATT

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.541-81_541-77delinsCTATT MANE Select ENSP00000039007.4:n.541-81_541-77delinsCTATT
ENST00000643344.1:c.*291-81_*291-77delinsCTATT ENSP00000496606.1:n.*291-81_*291-77delinsCTATT
ENST00000039007.4:c.541-81_541-77delinsCTATT ENSP00000039007.4:n.541-81_541-77delinsCTATT
ENST00000465127.1:c.172-262584_172-262580delinsCTATT ENSP00000417050.1:n.172-262584_172-262580delinsCTATT
ENST00000488812.1:n.578-81_578-77delinsCTATT
NM_000531.5:c.541-81_541-77delinsCTATT NP_000522.3:n.541-81_541-77delinsCTATT
XM_017029556.1:c.541-81_541-77delinsCTATT XP_016885045.1:n.541-81_541-77delinsCTATT
NM_000531.6:c.541-81_541-77delinsCTATT MANE Select NP_000522.3:n.541-81_541-77delinsCTATT