Canonical Allele Identifier: CA1132417603

Gene: OTC

Linked Data

• dbSNP Id: rs2068376781
• gnomAD v3: X-38381477-GATAAATTTCAAAAATAAAACATAATTCTC-G
• gnomAD v4: X-38381477-GATAAATTTCAAAAATAAAACATAATTCTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38381478_38381506del , CM000685.2:g.38381478_38381506del	GRCh38
NC_000023.10:g.38240731_38240759del , CM000685.1:g.38240731_38240759del	GRCh37
NC_000023.9:g.38125675_38125703del	NCBI36
NG_008471.1:g.33996_34024del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.386+49_386+77del MANE Select	ENSP00000039007.4:n.386+49_386+77del
ENST00000643344.1:c.*136+49_*136+77del	ENSP00000496606.1:n.*136+49_*136+77del
ENST00000039007.4:c.386+49_386+77del	ENSP00000039007.4:n.386+49_386+77del
ENST00000465127.1:c.172-284643_172-284615del	ENSP00000417050.1:n.172-284643_172-284615del
ENST00000488812.1:n.423+49_423+77del
NM_000531.5:c.386+49_386+77del	NP_000522.3:n.386+49_386+77del
XM_017029556.1:c.386+49_386+77del	XP_016885045.1:n.386+49_386+77del
NM_000531.6:c.386+49_386+77del MANE Select	NP_000522.3:n.386+49_386+77del