Canonical Allele Identifier: CA2693443299

Gene: OTC

Linked Data

• gnomAD v4: X-38369685-TAAACACTTATTTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38369686_38369698del , CM000685.2:g.38369686_38369698del	GRCh38
NC_000023.10:g.38228939_38228951del , CM000685.1:g.38228939_38228951del	GRCh37
NC_000023.9:g.38113883_38113895del	NCBI36
NG_008471.1:g.22204_22216del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.217-110_217-98del MANE Select	ENSP00000039007.4:n.217-110_217-98del
ENST00000643344.1:c.217-110_217-98del	ENSP00000496606.1:n.217-110_217-98del
ENST00000039007.4:c.217-110_217-98del	ENSP00000039007.4:n.217-110_217-98del
ENST00000465127.1:c.172-296435_172-296423del	ENSP00000417050.1:n.172-296435_172-296423del
ENST00000488812.1:n.309-110_309-98del
NM_000531.5:c.217-110_217-98del	NP_000522.3:n.217-110_217-98del
XM_017029556.1:c.217-110_217-98del	XP_016885045.1:n.217-110_217-98del
NM_000531.6:c.217-110_217-98del MANE Select	NP_000522.3:n.217-110_217-98del