Canonical Allele Identifier: CA2840256622

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993023del , CM000679.2:g.12993023del	GRCh38
NC_000017.10:g.12896340del , CM000679.1:g.12896340del	GRCh37
NC_000017.9:g.12837065del	NCBI36
NG_015808.1:g.30042del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2276del MANE Select	ENSP00000337445.4:p.Thr759LysfsTer5
ENST00000338034.8:c.2276del	ENSP00000337445.4:p.Thr759LysfsTer5
ENST00000395962.6:c.2219del	ENSP00000379291.1:p.Thr740LysfsTer5
ENST00000426905.7:c.2156del	ENSP00000405223.3:p.Thr719LysfsTer5
ENST00000465825.5:n.2163del
ENST00000480891.5:n.2105del
ENST00000484122.5:n.3106del
ENST00000487229.6:n.1822del
ENST00000584650.5:c.1675del
NM_001165962.1:c.2156del	NP_001159434.1:p.Thr719LysfsTer5
NM_018127.6:c.2276del	NP_060597.4:p.Thr759LysfsTer5
NM_173717.1:c.2273del	NP_776065.1:p.Thr758LysfsTer5
XM_024450850.1:c.2435del	XP_024306618.1:p.Thr812LysfsTer5
XM_024450851.1:c.2357del	XP_024306619.1:p.Thr786LysfsTer5
XM_024450852.1:c.2354del	XP_024306620.1:p.Thr785LysfsTer5
XM_024450853.1:c.2351del	XP_024306621.1:p.Thr784LysfsTer5
XM_024450854.1:c.2315del	XP_024306622.1:p.Thr772LysfsTer5
XM_024450855.1:c.2234del	XP_024306623.1:p.Thr745LysfsTer5
XM_024450856.1:c.2153del	XP_024306624.1:p.Thr718LysfsTer5
XM_024450857.1:c.2153del	XP_024306625.1:p.Thr718LysfsTer5
XM_024450858.1:c.2072del	XP_024306626.1:p.Thr691LysfsTer5
XM_024450859.1:c.2069del	XP_024306627.1:p.Thr690LysfsTer5
XM_024450860.1:c.1994del	XP_024306628.1:p.Thr665LysfsTer5
XM_024450861.1:c.1994del	XP_024306629.1:p.Thr665LysfsTer5
XM_024450862.1:c.1991del	XP_024306630.1:p.Thr664LysfsTer5
NM_018127.7:c.2276del MANE Select	NP_060597.4:p.Thr759LysfsTer5
NM_001165962.2:c.2156del	NP_001159434.1:p.Thr719LysfsTer5
NM_173717.2:c.2273del	NP_776065.1:p.Thr758LysfsTer5