Canonical Allele Identifier: CA1360918333
Gene: ABHD5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.43720466_43720467delinsAT , CM000665.2:g.43720466_43720467delinsAT GRCh38
NC_000003.11:g.43761958_43761959delinsAT , CM000665.1:g.43761958_43761959delinsAT GRCh37
NC_000003.10:g.43736962_43736963delinsAT NCBI36
NG_007090.3:g.34584_34585delinsAT
NG_007090.5:g.34597_34598delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000454293.2:c.*29+1905_*29+1906delinsAT ENSP00000412014.2:n.*29+1905_*29+1906delinsAT
ENST00000463153.2:c.306+1905_306+1906delinsAT
ENST00000643477.1:c.*2445_*2446delinsAT ENSP00000496220.1:n.*2445_*2446delinsAT
ENST00000644371.2:c.*1934_*1935delinsAT MANE Select ENSP00000495778.1:n.*1934_*1935delinsAT
ENST00000649763.1:c.*29+1905_*29+1906delinsAT ENSP00000497701.1:n.*29+1905_*29+1906delinsAT
ENST00000463153.1:n.309+1905_309+1906delinsAT
NM_016006.4:c.*1934_*1935delinsAT NP_057090.2:n.*1934_*1935delinsAT
XM_011533779.1:c.*1934_*1935delinsAT XP_011532081.1:n.*1934_*1935delinsAT
XM_011533780.1:c.*1960_*1961delinsAT XP_011532082.1:n.*1960_*1961delinsAT
XR_940447.1:n.2929_2930delinsAT
NM_001355186.1:c.*29+1905_*29+1906delinsAT NP_001342115.1:n.*29+1905_*29+1906delinsAT
NM_001365649.1:c.*1934_*1935delinsAT NP_001352578.1:n.*1934_*1935delinsAT
NM_001365650.1:c.*1960_*1961delinsAT NP_001352579.1:n.*1960_*1961delinsAT
NM_016006.5:c.*1934_*1935delinsAT NP_057090.2:n.*1934_*1935delinsAT
NR_158560.1:n.2995_2996delinsAT
NM_001355186.2:c.*29+1905_*29+1906delinsAT NP_001342115.1:n.*29+1905_*29+1906delinsAT
NM_016006.6:c.*1934_*1935delinsAT MANE Select NP_057090.2:n.*1934_*1935delinsAT