Canonical Allele Identifier: CA2693443430

Gene: OTC

Linked Data

• gnomAD v4: X-38369954-CGGGGATT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38369955_38369961del , CM000685.2:g.38369955_38369961del	GRCh38
NC_000023.10:g.38229208_38229214del , CM000685.1:g.38229208_38229214del	GRCh37
NC_000023.9:g.38114152_38114158del	NCBI36
NG_008471.1:g.22473_22479del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.298+78_298+84del MANE Select	ENSP00000039007.4:n.298+78_298+84del
ENST00000643344.1:c.298+78_298+84del	ENSP00000496606.1:n.298+78_298+84del
ENST00000039007.4:c.298+78_298+84del	ENSP00000039007.4:n.298+78_298+84del
ENST00000465127.1:c.172-296166_172-296160del	ENSP00000417050.1:n.172-296166_172-296160del
ENST00000488812.1:n.353+115_353+121del
NM_000531.5:c.298+78_298+84del	NP_000522.3:n.298+78_298+84del
XM_017029556.1:c.298+78_298+84del	XP_016885045.1:n.298+78_298+84del
NM_000531.6:c.298+78_298+84del MANE Select	NP_000522.3:n.298+78_298+84del