Canonical Allele Identifier: CA2840256618

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992971del , CM000679.2:g.12992971del	GRCh38
NC_000017.10:g.12896288del , CM000679.1:g.12896288del	GRCh37
NC_000017.9:g.12837013del	NCBI36
NG_015808.1:g.30095del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2329del MANE Select	ENSP00000337445.4:p.Glu777ArgfsTer?
ENST00000338034.8:c.2329del	ENSP00000337445.4:p.Glu777ArgfsTer?
ENST00000395962.6:c.2272del	ENSP00000379291.1:p.Glu758ArgfsTer?
ENST00000426905.7:c.2209del	ENSP00000405223.3:p.Glu737ArgfsTer?
ENST00000465825.5:n.2216del
ENST00000480891.5:n.2158del
ENST00000484122.5:n.3159del
ENST00000487229.6:n.1875del
ENST00000584650.5:c.1728del
NM_001165962.1:c.2209del	NP_001159434.1:p.Glu737ArgfsTer?
NM_018127.6:c.2329del	NP_060597.4:p.Glu777ArgfsTer?
NM_173717.1:c.2326del	NP_776065.1:p.Glu776ArgfsTer?
XM_024450850.1:c.2488del	XP_024306618.1:p.Glu830ArgfsTer?
XM_024450851.1:c.2410del	XP_024306619.1:p.Glu804ArgfsTer?
XM_024450852.1:c.2407del	XP_024306620.1:p.Glu803ArgfsTer?
XM_024450853.1:c.2404del	XP_024306621.1:p.Glu802ArgfsTer?
XM_024450854.1:c.2368del	XP_024306622.1:p.Glu790ArgfsTer?
XM_024450855.1:c.2287del	XP_024306623.1:p.Glu763ArgfsTer?
XM_024450856.1:c.2206del	XP_024306624.1:p.Glu736ArgfsTer?
XM_024450857.1:c.2206del	XP_024306625.1:p.Glu736ArgfsTer?
XM_024450858.1:c.2125del	XP_024306626.1:p.Glu709ArgfsTer?
XM_024450859.1:c.2122del	XP_024306627.1:p.Glu708ArgfsTer?
XM_024450860.1:c.2047del	XP_024306628.1:p.Glu683ArgfsTer?
XM_024450861.1:c.2047del	XP_024306629.1:p.Glu683ArgfsTer?
XM_024450862.1:c.2044del	XP_024306630.1:p.Glu682ArgfsTer?
NM_018127.7:c.2329del MANE Select	NP_060597.4:p.Glu777ArgfsTer?
NM_001165962.2:c.2209del	NP_001159434.1:p.Glu737ArgfsTer?
NM_173717.2:c.2326del	NP_776065.1:p.Glu776ArgfsTer?