Canonical Allele Identifier: CA2693443338

Gene: OTC

Linked Data

• gnomAD v4: X-38369743-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38369745_38369746del , CM000685.2:g.38369745_38369746del	GRCh38
NC_000023.10:g.38228998_38228999del , CM000685.1:g.38228998_38228999del	GRCh37
NC_000023.9:g.38113942_38113943del	NCBI36
NG_008471.1:g.22263_22264del

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.217-51_217-50del MANE Select	ENSP00000039007.4:n.217-51_217-50del
ENST00000643344.1:c.217-51_217-50del	ENSP00000496606.1:n.217-51_217-50del
ENST00000039007.4:c.217-51_217-50del	ENSP00000039007.4:n.217-51_217-50del
ENST00000465127.1:c.172-296376_172-296375del	ENSP00000417050.1:n.172-296376_172-296375del
ENST00000488812.1:n.309-51_309-50del
NM_000531.5:c.217-51_217-50del	NP_000522.3:n.217-51_217-50del
XM_017029556.1:c.217-51_217-50del	XP_016885045.1:n.217-51_217-50del
NM_000531.6:c.217-51_217-50del MANE Select	NP_000522.3:n.217-51_217-50del