Canonical Allele Identifier: CA542636037

Gene: ABHD5

Linked Data

• dbSNP Id: rs1457137931
• gnomAD v2: 3-43761976-ATGT-A
• gnomAD v3: 3-43720484-ATGT-A
• gnomAD v4: 3-43720484-ATGT-A
• MyVariant Identifiers: chr3:g.43761977_43761979del (hg19) ; chr3:g.43720485_43720487del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720488_43720490del , CM000665.2:g.43720488_43720490del	GRCh38
NC_000003.11:g.43761980_43761982del , CM000665.1:g.43761980_43761982del	GRCh37
NC_000003.10:g.43736984_43736986del	NCBI36
NG_007090.3:g.34606_34608del
NG_007090.5:g.34619_34621del

Transcript Alleles

HGVS	Amino-acid change
ENST00000454293.2:c.*29+1927_*29+1929del	ENSP00000412014.2:n.*29+1927_*29+1929del
ENST00000463153.2:c.306+1927_306+1929del
ENST00000643477.1:c.*2467_*2469del	ENSP00000496220.1:n.*2467_*2469del
ENST00000644371.2:c.*1956_*1958del MANE Select	ENSP00000495778.1:n.*1956_*1958del
ENST00000649763.1:c.*29+1927_*29+1929del	ENSP00000497701.1:n.*29+1927_*29+1929del
ENST00000463153.1:n.309+1927_309+1929del
NM_016006.4:c.*1956_*1958del	NP_057090.2:n.*1956_*1958del
XM_011533779.1:c.*1956_*1958del	XP_011532081.1:n.*1956_*1958del
XM_011533780.1:c.*1982_*1984del	XP_011532082.1:n.*1982_*1984del
XR_940447.1:n.2951_2953del
NM_001355186.1:c.*29+1927_*29+1929del	NP_001342115.1:n.*29+1927_*29+1929del
NM_001365649.1:c.*1956_*1958del	NP_001352578.1:n.*1956_*1958del
NM_001365650.1:c.*1982_*1984del	NP_001352579.1:n.*1982_*1984del
NM_016006.5:c.*1956_*1958del	NP_057090.2:n.*1956_*1958del
NR_158560.1:n.3017_3019del
NM_001355186.2:c.*29+1927_*29+1929del	NP_001342115.1:n.*29+1927_*29+1929del
NM_016006.6:c.*1956_*1958del MANE Select	NP_057090.2:n.*1956_*1958del