Canonical Allele Identifier: CA2693443613

Gene: OTC

Linked Data

• gnomAD v4: X-38381451-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38381453del , CM000685.2:g.38381453del	GRCh38
NC_000023.10:g.38240706del , CM000685.1:g.38240706del	GRCh37
NC_000023.9:g.38125650del	NCBI36
NG_008471.1:g.33971del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.386+24del MANE Select	ENSP00000039007.4:n.386+24del
ENST00000643344.1:c.*136+24del	ENSP00000496606.1:n.*136+24del
ENST00000039007.4:c.386+24del	ENSP00000039007.4:n.386+24del
ENST00000465127.1:c.172-284668del	ENSP00000417050.1:n.172-284668del
ENST00000488812.1:n.423+24del
NM_000531.5:c.386+24del	NP_000522.3:n.386+24del
XM_017029556.1:c.386+24del	XP_016885045.1:n.386+24del
NM_000531.6:c.386+24del MANE Select	NP_000522.3:n.386+24del