Canonical Allele Identifier: CA2424882779
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403816_38403817delinsAG , CM000685.2:g.38403816_38403817delinsAG GRCh38
NC_000023.10:g.38263069_38263070delinsAG , CM000685.1:g.38263069_38263070delinsAG GRCh37
NC_000023.9:g.38148013_38148014delinsAG NCBI36
NG_008471.1:g.56334_56335delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.663+76_663+77delinsAG MANE Select ENSP00000039007.4:n.663+76_663+77delinsAG
ENST00000643344.1:c.*413+76_*413+77delinsAG ENSP00000496606.1:n.*413+76_*413+77delinsAG
ENST00000039007.4:c.663+76_663+77delinsAG ENSP00000039007.4:n.663+76_663+77delinsAG
ENST00000465127.1:c.172-262305_172-262304delinsAG ENSP00000417050.1:n.172-262305_172-262304delinsAG
NM_000531.5:c.663+76_663+77delinsAG NP_000522.3:n.663+76_663+77delinsAG
XM_017029556.1:c.663+76_663+77delinsAG XP_016885045.1:n.663+76_663+77delinsAG
NM_000531.6:c.663+76_663+77delinsAG MANE Select NP_000522.3:n.663+76_663+77delinsAG