Canonical Allele Identifier: CA1360918485

Gene: ABHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720819_43720823delinsCTCTG , CM000665.2:g.43720819_43720823delinsCTCTG	GRCh38
NC_000003.11:g.43762311_43762315delinsCTCTG , CM000665.1:g.43762311_43762315delinsCTCTG	GRCh37
NC_000003.10:g.43737315_43737319delinsCTCTG	NCBI36
NG_007090.3:g.34937_34941delinsCTCTG
NG_007090.5:g.34950_34954delinsCTCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454293.2:c.*29+2258_*29+2262delinsCTCTG	ENSP00000412014.2:n.*29+2258_*29+2262delinsCTCTG
ENST00000463153.2:c.306+2258_306+2262delinsCTCTG
ENST00000644371.2:c.*2287_*2291delinsCTCTG MANE Select	ENSP00000495778.1:n.*2287_*2291delinsCTCTG
ENST00000649763.1:c.*29+2258_*29+2262delinsCTCTG	ENSP00000497701.1:n.*29+2258_*29+2262delinsCTCTG
ENST00000463153.1:n.309+2258_309+2262delinsCTCTG
NM_016006.4:c.*2287_*2291delinsCTCTG	NP_057090.2:n.*2287_*2291delinsCTCTG
XM_011533779.1:c.*2287_*2291delinsCTCTG	XP_011532081.1:n.*2287_*2291delinsCTCTG
XM_011533780.1:c.*2313_*2317delinsCTCTG	XP_011532082.1:n.*2313_*2317delinsCTCTG
XR_940447.1:n.3282_3286delinsCTCTG
NM_001355186.1:c.*29+2258_*29+2262delinsCTCTG	NP_001342115.1:n.*29+2258_*29+2262delinsCTCTG
NM_001365649.1:c.*2287_*2291delinsCTCTG	NP_001352578.1:n.*2287_*2291delinsCTCTG
NM_001365650.1:c.*2313_*2317delinsCTCTG	NP_001352579.1:n.*2313_*2317delinsCTCTG
NM_016006.5:c.*2287_*2291delinsCTCTG	NP_057090.2:n.*2287_*2291delinsCTCTG
NR_158560.1:n.3348_3352delinsCTCTG
NM_001355186.2:c.*29+2258_*29+2262delinsCTCTG	NP_001342115.1:n.*29+2258_*29+2262delinsCTCTG
NM_016006.6:c.*2287_*2291delinsCTCTG MANE Select	NP_057090.2:n.*2287_*2291delinsCTCTG