Canonical Allele Identifier: CA2840256617

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992921del , CM000679.2:g.12992921del	GRCh38
NC_000017.10:g.12896238del , CM000679.1:g.12896238del	GRCh37
NC_000017.9:g.12836963del	NCBI36
NG_015808.1:g.30146del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2380del MANE Select	ENSP00000337445.4:p.Leu794SerfsTer?
ENST00000338034.8:c.2380del	ENSP00000337445.4:p.Leu794SerfsTer?
ENST00000395962.6:c.2323del	ENSP00000379291.1:p.Leu775SerfsTer?
ENST00000426905.7:c.2260del	ENSP00000405223.3:p.Leu754SerfsTer?
ENST00000465825.5:n.2267del
ENST00000480891.5:n.2209del
ENST00000484122.5:n.3210del
ENST00000487229.6:n.1926del
ENST00000584650.5:c.1779del
NM_001165962.1:c.2260del	NP_001159434.1:p.Leu754SerfsTer?
NM_018127.6:c.2380del	NP_060597.4:p.Leu794SerfsTer?
NM_173717.1:c.2377del	NP_776065.1:p.Leu793SerfsTer?
XM_024450850.1:c.2539del	XP_024306618.1:p.Leu847SerfsTer?
XM_024450851.1:c.2461del	XP_024306619.1:p.Leu821SerfsTer?
XM_024450852.1:c.2458del	XP_024306620.1:p.Leu820SerfsTer?
XM_024450853.1:c.2455del	XP_024306621.1:p.Leu819SerfsTer?
XM_024450854.1:c.2419del	XP_024306622.1:p.Leu807SerfsTer?
XM_024450855.1:c.2338del	XP_024306623.1:p.Leu780SerfsTer?
XM_024450856.1:c.2257del	XP_024306624.1:p.Leu753SerfsTer?
XM_024450857.1:c.2257del	XP_024306625.1:p.Leu753SerfsTer?
XM_024450858.1:c.2176del	XP_024306626.1:p.Leu726SerfsTer?
XM_024450859.1:c.2173del	XP_024306627.1:p.Leu725SerfsTer?
XM_024450860.1:c.2098del	XP_024306628.1:p.Leu700SerfsTer?
XM_024450861.1:c.2098del	XP_024306629.1:p.Leu700SerfsTer?
XM_024450862.1:c.2095del	XP_024306630.1:p.Leu699SerfsTer?
NM_018127.7:c.2380del MANE Select	NP_060597.4:p.Leu794SerfsTer?
NM_001165962.2:c.2260del	NP_001159434.1:p.Leu754SerfsTer?
NM_173717.2:c.2377del	NP_776065.1:p.Leu793SerfsTer?