Canonical Allele Identifier: CA1752388552
Gene: AOC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150861339_150861341delinsAAC , CM000669.2:g.150861339_150861341delinsAAC GRCh38
NC_000007.13:g.150558427_150558429delinsAAC , CM000669.1:g.150558427_150558429delinsAAC GRCh37
NC_000007.12:g.150189360_150189362delinsAAC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000360937.9:c.*130_*132delinsAAC MANE Select ENSP00000354193.4:n.*130_*132delinsAAC
ENST00000360937.8:c.*130_*132delinsAAC ENSP00000354193.4:n.*130_*132delinsAAC
ENST00000467291.5:c.*130_*132delinsAAC ENSP00000418328.1:n.*130_*132delinsAAC
ENST00000493429.5:c.*130_*132delinsAAC ENSP00000418614.1:n.*130_*132delinsAAC
XR_928169.1:n.295+15668_295+15670delinsGTT
XR_928170.1:n.425+7275_425+7277delinsGTT
XR_928171.1:n.297+15668_297+15670delinsGTT
XR_928169.2:n.301+15668_301+15670delinsGTT
XR_928171.2:n.301+15668_301+15670delinsGTT
NM_001091.4:c.*130_*132delinsAAC MANE Select NP_001082.2:n.*130_*132delinsAAC
NM_001272072.2:c.*130_*132delinsAAC NP_001259001.1:n.*130_*132delinsAAC