Canonical Allele Identifier: CA2693443009

Gene: OTC

Linked Data

• gnomAD v4: X-38403537-CTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38403539_38403540del , CM000685.2:g.38403539_38403540del	GRCh38
NC_000023.10:g.38262792_38262793del , CM000685.1:g.38262792_38262793del	GRCh37
NC_000023.9:g.38147736_38147737del	NCBI36
NG_008471.1:g.56057_56058del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.541-79_541-78del MANE Select	ENSP00000039007.4:n.541-79_541-78del
ENST00000643344.1:c.*291-79_*291-78del	ENSP00000496606.1:n.*291-79_*291-78del
ENST00000039007.4:c.541-79_541-78del	ENSP00000039007.4:n.541-79_541-78del
ENST00000465127.1:c.172-262582_172-262581del	ENSP00000417050.1:n.172-262582_172-262581del
ENST00000488812.1:n.578-79_578-78del
NM_000531.5:c.541-79_541-78del	NP_000522.3:n.541-79_541-78del
XM_017029556.1:c.541-79_541-78del	XP_016885045.1:n.541-79_541-78del
NM_000531.6:c.541-79_541-78del MANE Select	NP_000522.3:n.541-79_541-78del