Canonical Allele Identifier: CA2820489845

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38381334_38381335insTTTTTTTTTTTTTTTTTTTT , CM000685.2:g.38381334_38381335insTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000023.10:g.38240587_38240588insTTTTTTTTTTTTTTTTTTTT , CM000685.1:g.38240587_38240588insTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000023.9:g.38125531_38125532insTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_008471.1:g.33852_33853insTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.299-8_299-7insTTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000039007.4:n.299-8_299-7insTTTTTTTTTTTTTTTTTTTT
ENST00000643344.1:c.*49-8_*49-7insTTTTTTTTTTTTTTTTTTTT	ENSP00000496606.1:n.*49-8_*49-7insTTTTTTTTTTTTTTTTTTTT
ENST00000039007.4:c.299-8_299-7insTTTTTTTTTTTTTTTTTTTT	ENSP00000039007.4:n.299-8_299-7insTTTTTTTTTTTTTTTTTTTT
ENST00000465127.1:c.172-284787_172-284786insTTTTTTTTTTTTTTTTTTTT	ENSP00000417050.1:n.172-284787_172-284786insTTTTTTTTTTTTTTTTT...
ENST00000488812.1:n.354-26_354-25insTTTTTTTTTTTTTTTTTTTT
NM_000531.5:c.299-8_299-7insTTTTTTTTTTTTTTTTTTTT	NP_000522.3:n.299-8_299-7insTTTTTTTTTTTTTTTTTTTT
XM_017029556.1:c.299-8_299-7insTTTTTTTTTTTTTTTTTTTT	XP_016885045.1:n.299-8_299-7insTTTTTTTTTTTTTTTTTTTT
NM_000531.6:c.299-8_299-7insTTTTTTTTTTTTTTTTTTTT MANE Select	NP_000522.3:n.299-8_299-7insTTTTTTTTTTTTTTTTTTTT