Canonical Allele Identifier: CA2693443578

Gene: OTC

Linked Data

• gnomAD v4: X-38381324-C-CTTTTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38381334_38381335insTTTTTTTTTTTTTTTTTT , CM000685.2:g.38381334_38381335insTTTTTTTTTTTTTTTTTT	GRCh38
NC_000023.10:g.38240587_38240588insTTTTTTTTTTTTTTTTTT , CM000685.1:g.38240587_38240588insTTTTTTTTTTTTTTTTTT	GRCh37
NC_000023.9:g.38125531_38125532insTTTTTTTTTTTTTTTTTT	NCBI36
NG_008471.1:g.33852_33853insTTTTTTTTTTTTTTTTTT

Transcript Alleles

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