Canonical Allele Identifier: CA2693442835

Gene: OTC

Linked Data

• gnomAD v4: X-38401191-CTTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38401194_38401196del , CM000685.2:g.38401194_38401196del	GRCh38
NC_000023.10:g.38260447_38260449del , CM000685.1:g.38260447_38260449del	GRCh37
NC_000023.9:g.38145391_38145393del	NCBI36
NG_008471.1:g.53712_53714del

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.387-81_387-79del MANE Select	ENSP00000039007.4:n.387-81_387-79del
ENST00000643344.1:c.*137-81_*137-79del	ENSP00000496606.1:n.*137-81_*137-79del
ENST00000039007.4:c.387-81_387-79del	ENSP00000039007.4:n.387-81_387-79del
ENST00000465127.1:c.172-264927_172-264925del	ENSP00000417050.1:n.172-264927_172-264925...
ENST00000488812.1:n.424-81_424-79del
NM_000531.5:c.387-81_387-79del	NP_000522.3:n.387-81_387-79del
XM_017029556.1:c.387-81_387-79del	XP_016885045.1:n.387-81_387-79del
NM_000531.6:c.387-81_387-79del MANE Select	NP_000522.3:n.387-81_387-79del