Canonical Allele Identifier: CA640863688

Gene: OTC

Linked Data

• gnomAD v2: X-38229005-TATATAAG-T
• gnomAD v4: X-38369752-TATATAAG-T
• MyVariant Identifiers: chrX:g.38229006_38229012del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38369758_38369764del , CM000685.2:g.38369758_38369764del	GRCh38
NC_000023.10:g.38229011_38229017del , CM000685.1:g.38229011_38229017del	GRCh37
NC_000023.9:g.38113955_38113961del	NCBI36
NG_008471.1:g.22276_22282del

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.217-38_217-32del MANE Select	ENSP00000039007.4:n.217-38_217-32del
ENST00000643344.1:c.217-38_217-32del	ENSP00000496606.1:n.217-38_217-32del
ENST00000039007.4:c.217-38_217-32del	ENSP00000039007.4:n.217-38_217-32del
ENST00000465127.1:c.172-296363_172-296357del	ENSP00000417050.1:n.172-296363_172-296357del
ENST00000488812.1:n.309-38_309-32del
NM_000531.5:c.217-38_217-32del	NP_000522.3:n.217-38_217-32del
XM_017029556.1:c.217-38_217-32del	XP_016885045.1:n.217-38_217-32del
NM_000531.6:c.217-38_217-32del MANE Select	NP_000522.3:n.217-38_217-32del