Canonical Allele Identifier: CA2693443082

Gene: OTC

Linked Data

• gnomAD v4: X-38403800-ACCCAGTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38403801_38403807del , CM000685.2:g.38403801_38403807del	GRCh38
NC_000023.10:g.38263054_38263060del , CM000685.1:g.38263054_38263060del	GRCh37
NC_000023.9:g.38147998_38148004del	NCBI36
NG_008471.1:g.56319_56325del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.663+61_663+67del MANE Select	ENSP00000039007.4:n.663+61_663+67del
ENST00000643344.1:c.*413+61_*413+67del	ENSP00000496606.1:n.*413+61_*413+67del
ENST00000039007.4:c.663+61_663+67del	ENSP00000039007.4:n.663+61_663+67del
ENST00000465127.1:c.172-262320_172-262314del	ENSP00000417050.1:n.172-262320_172-262314del
NM_000531.5:c.663+61_663+67del	NP_000522.3:n.663+61_663+67del
XM_017029556.1:c.663+61_663+67del	XP_016885045.1:n.663+61_663+67del
NM_000531.6:c.663+61_663+67del MANE Select	NP_000522.3:n.663+61_663+67del