Canonical Allele Identifier: CA2820489189

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38369759_38369760insGCCTTTCTACTATTTC , CM000685.2:g.38369759_38369760insGCCTTTCTACTATTTC	GRCh38
NC_000023.10:g.38229012_38229013insGCCTTTCTACTATTTC , CM000685.1:g.38229012_38229013insGCCTTTCTACTATTTC	GRCh37
NC_000023.9:g.38113956_38113957insGCCTTTCTACTATTTC	NCBI36
NG_008471.1:g.22277_22278insGCCTTTCTACTATTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.217-37_217-36insGCCTTTCTACTATTTC MANE Select	ENSP00000039007.4:n.217-37_217-36insGCCTTTCTACTATTTC
ENST00000643344.1:c.217-37_217-36insGCCTTTCTACTATTTC	ENSP00000496606.1:n.217-37_217-36insGCCTTTCTACTATTTC
ENST00000039007.4:c.217-37_217-36insGCCTTTCTACTATTTC	ENSP00000039007.4:n.217-37_217-36insGCCTTTCTACTATTTC
ENST00000465127.1:c.172-296362_172-296361insGCCTTTCTACTATTTC	ENSP00000417050.1:n.172-296362_172-296361insGCCTTTCTACTATTTC
ENST00000488812.1:n.309-37_309-36insGCCTTTCTACTATTTC
NM_000531.5:c.217-37_217-36insGCCTTTCTACTATTTC	NP_000522.3:n.217-37_217-36insGCCTTTCTACTATTTC
XM_017029556.1:c.217-37_217-36insGCCTTTCTACTATTTC	XP_016885045.1:n.217-37_217-36insGCCTTTCTACTATTTC
NM_000531.6:c.217-37_217-36insGCCTTTCTACTATTTC MANE Select	NP_000522.3:n.217-37_217-36insGCCTTTCTACTATTTC