Canonical Allele Identifier: CA2356806480
Gene: ABHD12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.25308022_25308025delinsATAT , CM000682.2:g.25308022_25308025delinsATAT GRCh38
NC_000020.10:g.25288658_25288661delinsATAT , CM000682.1:g.25288658_25288661delinsATAT GRCh37
NC_000020.9:g.25236658_25236661delinsATAT NCBI36
NG_028119.1:g.87958_87961delinsATAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000339157.10:c.808_811delinsATAT MANE Select ENSP00000341408.5:p.Ile270=
ENST00000376542.8:c.808_811delinsATAT ENSP00000365725.3:p.Ile270=
ENST00000465694.2:c.262_265delinsATAT ENSP00000459278.2:p.Ile88=
ENST00000671784.1:c.262_265delinsATAT ENSP00000500451.1:p.Ile88=
ENST00000671858.1:c.262_265delinsATAT ENSP00000500550.1:p.Ile88=
ENST00000672001.1:n.319_322delinsATAT
ENST00000672114.1:c.262_265delinsATAT ENSP00000499945.1:p.Ile88=
ENST00000672258.1:c.262_265delinsATAT ENSP00000499868.1:p.Ile88=
ENST00000672331.1:c.262_265delinsATAT ENSP00000500286.1:p.Ile88=
ENST00000672358.1:c.262_265delinsATAT ENSP00000500062.1:p.Ile88=
ENST00000672406.1:c.*147_*150delinsATAT ENSP00000500208.1:n.*147_*150delinsATAT
ENST00000672566.1:c.337_340delinsATAT ENSP00000500106.1:p.Ile113=
ENST00000672596.1:c.262_265delinsATAT ENSP00000500290.1:p.Ile88=
ENST00000672871.1:c.262_265delinsATAT ENSP00000499949.1:p.Ile88=
ENST00000673094.1:c.262_265delinsATAT ENSP00000500257.1:p.Ile88=
ENST00000673121.1:c.364_367delinsATAT ENSP00000499839.1:p.Ile122=
ENST00000673227.1:c.262_265delinsATAT ENSP00000500514.1:p.Ile88=
ENST00000673524.1:c.370_373delinsATAT
ENST00000339157.9:c.808_811delinsATAT ENSP00000341408.5:p.Ile270=
ENST00000376542.7:c.808_811delinsATAT ENSP00000365725.3:p.Ile270=
ENST00000481556.1:n.462_465delinsATAT
ENST00000491682.5:c.337_340delinsATAT ENSP00000459495.1:p.Ile113=
ENST00000576316.5:c.112_115delinsATAT ENSP00000459121.1:p.Ile38=
NM_001042472.2:c.808_811delinsATAT NP_001035937.1:p.Ile270=
NM_015600.4:c.808_811delinsATAT NP_056415.1:p.Ile270=
XM_005260698.1:c.808_811delinsATAT XP_005260755.1:p.Ile270=
XM_005260699.3:c.808_811delinsATAT XP_005260756.1:p.Ile270=
XM_005260700.1:c.337_340delinsATAT XP_005260757.1:p.Ile113=
XM_011529214.1:c.808_811delinsATAT XP_011527516.1:p.Ile270=
XM_011529215.1:c.337_340delinsATAT XP_011527517.1:p.Ile113=
XM_011529216.1:c.337_340delinsATAT XP_011527518.1:p.Ile113=
XM_011529217.1:c.151_154delinsATAT XP_011527519.1:p.Ile51=
XM_011529218.1:c.151_154delinsATAT XP_011527520.1:p.Ile51=
XM_011529214.2:c.808_811delinsATAT XP_011527516.1:p.Ile270=
XM_017027796.1:c.337_340delinsATAT XP_016883285.1:p.Ile113=
XR_002958465.1:n.818_821delinsATAT
XR_002958466.1:n.938_941delinsATAT
XR_002958467.1:n.497_500delinsATAT
NM_001042472.3:c.808_811delinsATAT MANE Select NP_001035937.1:p.Ile270=
NM_015600.5:c.808_811delinsATAT NP_056415.1:p.Ile270=