Canonical Allele Identifier: CA2693443598

Gene: OTC

Linked Data

• gnomAD v4: X-38381334-T-TTA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38381334_38381335insTA , CM000685.2:g.38381334_38381335insTA	GRCh38
NC_000023.10:g.38240587_38240588insTA , CM000685.1:g.38240587_38240588insTA	GRCh37
NC_000023.9:g.38125531_38125532insTA	NCBI36
NG_008471.1:g.33852_33853insTA

Transcript Alleles

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