Canonical Allele Identifier: CA2499495756

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38408725_38408726insTAAAACGCTCAACATAAGGATGAGTCACACCACTAGATTGACCTAAAGCAAAGTGGAAATGAACTTTGAC , CM000685.2:g.38408725_38408726insTAAAACGCTCAACATAAGGATGAGTCACACCACTAGATTGACCTAAAGCAAAGTGGAAATGAACTTTGAC	GRCh38
NC_000023.10:g.38267978_38267979insTAAAACGCTCAACATAAGGATGAGTCACACCACTAGATTGACCTAAAGCAAAGTGGAAATGAACTTTGAC , CM000685.1:g.38267978_38267979insTAAAACGCTCAACATAAGGATGAGTCACACCACTAGATTGACCTAAAGCAAAGTGGAAATGAACTTTGAC	GRCh37
NC_000023.9:g.38152922_38152923insTAAAACGCTCAACATAAGGATGAGTCACACCACTAGATTGACCTAAAGCAAAGTGGAAATGAACTTTGAC	NCBI36
NG_008471.1:g.61243_61244insTAAAACGCTCAACATAAGGATGAGTCACACCACTAGATTGACCTAAAGCAAAGTGGAAATGAACTTTGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.664-17_664-16insTAAAACGCTCAACATAAGGATGAGTCACACCACTAGATTGACCTAAAGCAAAGTGGAAATGAACTTTGAC MANE Select	ENSP00000039007.4:n.664-17_664-16insTAAAACGCTCAACATAAGGATGAGT...
ENST00000643344.1:c.*414-17_*414-16insTAAAACGCTCAACATAAGGATGAGTCACACCACTAGATTGACCTAAAGCAAAGTGGAAATGAACTTTGAC	ENSP00000496606.1:n.*414-17_*414-16insTAAAACGCTCAACATAAGGATGA...
ENST00000039007.4:c.664-17_664-16insTAAAACGCTCAACATAAGGATGAGTCACACCACTAGATTGACCTAAAGCAAAGTGGAAATGAACTTTGAC	ENSP00000039007.4:n.664-17_664-16insTAAAACGCTCAACATAAGGATGAGT...
ENST00000465127.1:c.172-257396_172-257395insTAAAACGCTCAACATAAGGATGAGTCACACCACTAGATTGACCTAAAGCAAAGTGGAAATGAACTTTGAC	ENSP00000417050.1:n.172-257396_172-257395insTAAAACGCTCAACATAA...
NM_000531.5:c.664-17_664-16insTAAAACGCTCAACATAAGGATGAGTCACACCACTAGATTGACCTAAAGCAAAGTGGAAATGAACTTTGAC	NP_000522.3:n.664-17_664-16insTAAAACGCTCAACATAAGGATGAGTCACACC...
XM_017029556.1:c.664-17_664-16insTAAAACGCTCAACATAAGGATGAGTCACACCACTAGATTGACCTAAAGCAAAGTGGAAATGAACTTTGAC	XP_016885045.1:n.664-17_664-16insTAAAACGCTCAACATAAGGATGAGTCAC...
NM_000531.6:c.664-17_664-16insTAAAACGCTCAACATAAGGATGAGTCACACCACTAGATTGACCTAAAGCAAAGTGGAAATGAACTTTGAC MANE Select	NP_000522.3:n.664-17_664-16insTAAAACGCTCAACATAAGGATGAGTCACACC...