Canonical Allele Identifier: CA2693443396

Gene: OTC

Linked Data

• gnomAD v4: X-38369901-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38369902_38369903del , CM000685.2:g.38369902_38369903del	GRCh38
NC_000023.10:g.38229155_38229156del , CM000685.1:g.38229155_38229156del	GRCh37
NC_000023.9:g.38114099_38114100del	NCBI36
NG_008471.1:g.22420_22421del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.298+25_298+26del MANE Select	ENSP00000039007.4:n.298+25_298+26del
ENST00000643344.1:c.298+25_298+26del	ENSP00000496606.1:n.298+25_298+26del
ENST00000039007.4:c.298+25_298+26del	ENSP00000039007.4:n.298+25_298+26del
ENST00000465127.1:c.172-296219_172-296218del	ENSP00000417050.1:n.172-296219_172-296218del
ENST00000488812.1:n.353+62_353+63del
NM_000531.5:c.298+25_298+26del	NP_000522.3:n.298+25_298+26del
XM_017029556.1:c.298+25_298+26del	XP_016885045.1:n.298+25_298+26del
NM_000531.6:c.298+25_298+26del MANE Select	NP_000522.3:n.298+25_298+26del