Canonical Allele Identifier: CA542636041

Gene: ABHD5

Linked Data

• dbSNP Id: rs1171966922
• gnomAD v2: 3-43761998-T-TA
• gnomAD v3: 3-43720506-T-TA
• gnomAD v4: 3-43720506-T-TA
• MyVariant Identifiers: chr3:g.43761998_43761999insA (hg19) ; chr3:g.43720506_43720507insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720507dup , CM000665.2:g.43720507dup	GRCh38
NC_000003.11:g.43761999dup , CM000665.1:g.43761999dup	GRCh37
NC_000003.10:g.43737003dup	NCBI36
NG_007090.3:g.34625dup
NG_007090.5:g.34638dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000454293.2:c.*29+1946dup	ENSP00000412014.2:n.*29+1946dup
ENST00000463153.2:c.306+1946dup
ENST00000643477.1:c.*2486dup	ENSP00000496220.1:n.*2486dup
ENST00000644371.2:c.*1975dup MANE Select	ENSP00000495778.1:n.*1975dup
ENST00000649763.1:c.*29+1946dup	ENSP00000497701.1:n.*29+1946dup
ENST00000463153.1:n.309+1946dup
NM_016006.4:c.*1975dup	NP_057090.2:n.*1975dup
XM_011533779.1:c.*1975dup	XP_011532081.1:n.*1975dup
XM_011533780.1:c.*2001dup	XP_011532082.1:n.*2001dup
XR_940447.1:n.2970dup
NM_001355186.1:c.*29+1946dup	NP_001342115.1:n.*29+1946dup
NM_001365649.1:c.*1975dup	NP_001352578.1:n.*1975dup
NM_001365650.1:c.*2001dup	NP_001352579.1:n.*2001dup
NM_016006.5:c.*1975dup	NP_057090.2:n.*1975dup
NR_158560.1:n.3036dup
NM_001355186.2:c.*29+1946dup	NP_001342115.1:n.*29+1946dup
NM_016006.6:c.*1975dup MANE Select	NP_057090.2:n.*1975dup