Canonical Allele Identifier: CA2693443422

Gene: OTC

Linked Data

• gnomAD v4: X-38369949-CAGTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38369950_38369953del , CM000685.2:g.38369950_38369953del	GRCh38
NC_000023.10:g.38229203_38229206del , CM000685.1:g.38229203_38229206del	GRCh37
NC_000023.9:g.38114147_38114150del	NCBI36
NG_008471.1:g.22468_22471del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.298+73_298+76del MANE Select	ENSP00000039007.4:n.298+73_298+76del
ENST00000643344.1:c.298+73_298+76del	ENSP00000496606.1:n.298+73_298+76del
ENST00000039007.4:c.298+73_298+76del	ENSP00000039007.4:n.298+73_298+76del
ENST00000465127.1:c.172-296171_172-296168del	ENSP00000417050.1:n.172-296171_172-296168del
ENST00000488812.1:n.353+110_353+113del
NM_000531.5:c.298+73_298+76del	NP_000522.3:n.298+73_298+76del
XM_017029556.1:c.298+73_298+76del	XP_016885045.1:n.298+73_298+76del
NM_000531.6:c.298+73_298+76del MANE Select	NP_000522.3:n.298+73_298+76del