Canonical Allele Identifier: CA2579584833

Gene: OTC

Linked Data

• gnomAD v4: X-38403569-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38403571del , CM000685.2:g.38403571del	GRCh38
NC_000023.10:g.38262824del , CM000685.1:g.38262824del	GRCh37
NC_000023.9:g.38147768del	NCBI36
NG_008471.1:g.56089del

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.541-47del MANE Select	ENSP00000039007.4:n.541-47del
ENST00000643344.1:c.*291-47del	ENSP00000496606.1:n.*291-47del
ENST00000039007.4:c.541-47del	ENSP00000039007.4:n.541-47del
ENST00000465127.1:c.172-262550del	ENSP00000417050.1:n.172-262550del
ENST00000488812.1:n.578-47del
NM_000531.5:c.541-47del	NP_000522.3:n.541-47del
XM_017029556.1:c.541-47del	XP_016885045.1:n.541-47del
NM_000531.6:c.541-47del MANE Select	NP_000522.3:n.541-47del