Canonical Allele Identifier: CA2693443217
Gene: OTC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408999_38409047dup , CM000685.2:g.38408999_38409047dup GRCh38
NC_000023.10:g.38268252_38268300dup , CM000685.1:g.38268252_38268300dup GRCh37
NC_000023.9:g.38153196_38153244dup NCBI36
NG_008471.1:g.61517_61565dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.841_867+22dup
ENST00000643344.1:c.*591_*617+22dup
ENST00000039007.4:c.841_867+22dup
ENST00000465127.1:c.172-257122_172-257074dup ENSP00000417050.1:n.172-257122_172-257074dup
NM_000531.5:c.841_867+22dup
XM_017029556.1:c.841_867+22dup
NM_000531.6:c.841_867+22dup