Canonical Allele Identifier: CA2537007872

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38369935_38369936insAAATCAAGGACAAGAA , CM000685.2:g.38369935_38369936insAAATCAAGGACAAGAA	GRCh38
NC_000023.10:g.38229188_38229189insAAATCAAGGACAAGAA , CM000685.1:g.38229188_38229189insAAATCAAGGACAAGAA	GRCh37
NC_000023.9:g.38114132_38114133insAAATCAAGGACAAGAA	NCBI36
NG_008471.1:g.22453_22454insAAATCAAGGACAAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.298+58_298+59insAAATCAAGGACAAGAA MANE Select	ENSP00000039007.4:n.298+58_298+59insAAATCAAGGACAAGAA
ENST00000643344.1:c.298+58_298+59insAAATCAAGGACAAGAA	ENSP00000496606.1:n.298+58_298+59insAAATCAAGGACAAGAA
ENST00000039007.4:c.298+58_298+59insAAATCAAGGACAAGAA	ENSP00000039007.4:n.298+58_298+59insAAATCAAGGACAAGAA
ENST00000465127.1:c.172-296186_172-296185insAAATCAAGGACAAGAA	ENSP00000417050.1:n.172-296186_172-296185insAAATCAAGGACAAGAA
ENST00000488812.1:n.353+95_353+96insAAATCAAGGACAAGAA
NM_000531.5:c.298+58_298+59insAAATCAAGGACAAGAA	NP_000522.3:n.298+58_298+59insAAATCAAGGACAAGAA
XM_017029556.1:c.298+58_298+59insAAATCAAGGACAAGAA	XP_016885045.1:n.298+58_298+59insAAATCAAGGACAAGAA
NM_000531.6:c.298+58_298+59insAAATCAAGGACAAGAA MANE Select	NP_000522.3:n.298+58_298+59insAAATCAAGGACAAGAA