Canonical Allele Identifier: CA542636046

Gene: ABHD5

Linked Data

• gnomAD v2: 3-43762245-TTA-T
• MyVariant Identifiers: chr3:g.43762246_43762247del (hg19) ; chr3:g.43720754_43720755del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720754_43720755del , CM000665.2:g.43720754_43720755del	GRCh38
NC_000003.11:g.43762246_43762247del , CM000665.1:g.43762246_43762247del	GRCh37
NC_000003.10:g.43737250_43737251del	NCBI36
NG_007090.3:g.34872_34873del
NG_007090.5:g.34885_34886del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454293.2:c.*29+2193_*29+2194del	ENSP00000412014.2:n.*29+2193_*29+2194del
ENST00000463153.2:c.306+2193_306+2194del
ENST00000643477.1:c.*2733_*2734del	ENSP00000496220.1:n.*2733_*2734del
ENST00000644371.2:c.*2222_*2223del MANE Select	ENSP00000495778.1:n.*2222_*2223del
ENST00000649763.1:c.*29+2193_*29+2194del	ENSP00000497701.1:n.*29+2193_*29+2194del
ENST00000463153.1:n.309+2193_309+2194del
NM_016006.4:c.*2222_*2223del	NP_057090.2:n.*2222_*2223del
XM_011533779.1:c.*2222_*2223del	XP_011532081.1:n.*2222_*2223del
XM_011533780.1:c.*2248_*2249del	XP_011532082.1:n.*2248_*2249del
XR_940447.1:n.3217_3218del
NM_001355186.1:c.*29+2193_*29+2194del	NP_001342115.1:n.*29+2193_*29+2194del
NM_001365649.1:c.*2222_*2223del	NP_001352578.1:n.*2222_*2223del
NM_001365650.1:c.*2248_*2249del	NP_001352579.1:n.*2248_*2249del
NM_016006.5:c.*2222_*2223del	NP_057090.2:n.*2222_*2223del
NR_158560.1:n.3283_3284del
NM_001355186.2:c.*29+2193_*29+2194del	NP_001342115.1:n.*29+2193_*29+2194del
NM_016006.6:c.*2222_*2223del MANE Select	NP_057090.2:n.*2222_*2223del