Canonical Allele Identifier: CA1360917144
Gene: ABHD5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.43717732_43717733delinsCA , CM000665.2:g.43717732_43717733delinsCA GRCh38
NC_000003.11:g.43759224_43759225delinsCA , CM000665.1:g.43759224_43759225delinsCA GRCh37
NC_000003.10:g.43734228_43734229delinsCA NCBI36
NG_007090.3:g.31850_31851delinsCA
NG_007090.5:g.31863_31864delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000413300.2:c.268-34_268-33delinsCA
ENST00000454293.2:c.712_713delinsCA ENSP00000412014.2:p.Gln238=
ENST00000458276.7:c.774-711_774-710delinsCA ENSP00000390849.3:n.774-711_774-710delinsCA
ENST00000463153.2:c.62_63delinsCA
ENST00000642351.1:c.712_713delinsCA ENSP00000494478.1:p.Gln238=
ENST00000643140.1:c.*197_*198delinsCA ENSP00000495588.1:n.*197_*198delinsCA
ENST00000643477.1:c.*296_*297delinsCA ENSP00000496220.1:n.*296_*297delinsCA
ENST00000643500.1:c.*36_*37delinsCA ENSP00000494735.1:n.*36_*37delinsCA
ENST00000643520.1:n.1001_1002delinsCA
ENST00000644371.2:c.835_836delinsCA MANE Select ENSP00000495778.1:p.Gln279=
ENST00000646378.1:c.*885_*886delinsCA ENSP00000495826.1:n.*885_*886delinsCA
ENST00000646799.1:c.*248-711_*248-710delinsCA ENSP00000494829.1:n.*248-711_*248-710delinsCA
ENST00000649763.1:c.835_836delinsCA ENSP00000497701.1:p.Gln279=
ENST00000413300.1:c.270-34_270-33delinsCA ENSP00000392159.1:n.270-34_270-33delinsCA
ENST00000458276.6:c.835_836delinsCA ENSP00000390849.2:p.Gln279=
ENST00000463153.1:n.65_66delinsCA
NM_016006.4:c.835_836delinsCA NP_057090.2:p.Gln279=
XM_011533779.1:c.712_713delinsCA XP_011532081.1:p.Gln238=
XM_011533780.1:c.774-711_774-710delinsCA XP_011532082.1:n.774-711_774-710delinsCA
XR_940447.1:n.780_781delinsCA
NM_001355186.1:c.835_836delinsCA NP_001342115.1:p.Gln279=
NM_001365649.1:c.712_713delinsCA NP_001352578.1:p.Gln238=
NM_001365650.1:c.774-711_774-710delinsCA NP_001352579.1:n.774-711_774-710delinsCA
NM_016006.5:c.835_836delinsCA NP_057090.2:p.Gln279=
NR_158560.1:n.846_847delinsCA
NM_001355186.2:c.835_836delinsCA NP_001342115.1:p.Gln279=
NM_016006.6:c.835_836delinsCA MANE Select NP_057090.2:p.Gln279=