Canonical Allele Identifier: CA2693443236

Gene: OTC

Linked Data

• gnomAD v4: X-38409084-C-CTAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38409085_38409088dup , CM000685.2:g.38409085_38409088dup	GRCh38
NC_000023.10:g.38268338_38268341dup , CM000685.1:g.38268338_38268341dup	GRCh37
NC_000023.9:g.38153282_38153285dup	NCBI36
NG_008471.1:g.61603_61606dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.867+60_867+63dup MANE Select	ENSP00000039007.4:n.867+60_867+63dup
ENST00000643344.1:c.*617+60_*617+63dup	ENSP00000496606.1:n.*617+60_*617+63dup
ENST00000039007.4:c.867+60_867+63dup	ENSP00000039007.4:n.867+60_867+63dup
ENST00000465127.1:c.172-257036_172-257033dup	ENSP00000417050.1:n.172-257036_172-257033dup
NM_000531.5:c.867+60_867+63dup	NP_000522.3:n.867+60_867+63dup
XM_017029556.1:c.867+60_867+63dup	XP_016885045.1:n.867+60_867+63dup
NM_000531.6:c.867+60_867+63dup MANE Select	NP_000522.3:n.867+60_867+63dup