Canonical Allele Identifier: CA875142881

Gene: OTC

Linked Data

• dbSNP Id: rs1389606927
• gnomAD v3: X-38367184-AAAAAG-A
• gnomAD v4: X-38367184-AAAAAG-A
• MyVariant Identifiers: chrX:g.38226438_38226442del (hg19) ; chrX:g.38367185_38367189del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38367197_38367201del , CM000685.2:g.38367197_38367201del	GRCh38
NC_000023.10:g.38226450_38226454del , CM000685.1:g.38226450_38226454del	GRCh37
NC_000023.9:g.38111394_38111398del	NCBI36
NG_008471.1:g.19715_19719del

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.78-94_78-90del MANE Select	ENSP00000039007.4:n.78-94_78-90del
ENST00000643344.1:c.78-94_78-90del	ENSP00000496606.1:n.78-94_78-90del
ENST00000039007.4:c.78-94_78-90del	ENSP00000039007.4:n.78-94_78-90del
ENST00000465127.1:c.172-298924_172-298920del	ENSP00000417050.1:n.172-298924_172-298920...
ENST00000488812.1:n.170-94_170-90del
NM_000531.5:c.78-94_78-90del	NP_000522.3:n.78-94_78-90del
XM_017029556.1:c.78-94_78-90del	XP_016885045.1:n.78-94_78-90del
NM_000531.6:c.78-94_78-90del MANE Select	NP_000522.3:n.78-94_78-90del