Canonical Allele Identifier: CA2838574686

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992988dup , CM000679.2:g.12992988dup	GRCh38
NC_000017.10:g.12896305dup , CM000679.1:g.12896305dup	GRCh37
NC_000017.9:g.12837030dup	NCBI36
NG_015808.1:g.30079dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2313dup MANE Select	ENSP00000337445.4:p.Ala772CysfsTer?
ENST00000338034.8:c.2313dup	ENSP00000337445.4:p.Ala772CysfsTer?
ENST00000395962.6:c.2256dup	ENSP00000379291.1:p.Ala753CysfsTer?
ENST00000426905.7:c.2193dup	ENSP00000405223.3:p.Ala732CysfsTer?
ENST00000465825.5:n.2200dup
ENST00000480891.5:n.2142dup
ENST00000484122.5:n.3143dup
ENST00000487229.6:n.1859dup
ENST00000584650.5:c.1712dup
NM_001165962.1:c.2193dup	NP_001159434.1:p.Ala732CysfsTer?
NM_018127.6:c.2313dup	NP_060597.4:p.Ala772CysfsTer?
NM_173717.1:c.2310dup	NP_776065.1:p.Ala771CysfsTer?
XM_024450850.1:c.2472dup	XP_024306618.1:p.Ala825CysfsTer?
XM_024450851.1:c.2394dup	XP_024306619.1:p.Ala799CysfsTer?
XM_024450852.1:c.2391dup	XP_024306620.1:p.Ala798CysfsTer?
XM_024450853.1:c.2388dup	XP_024306621.1:p.Ala797CysfsTer?
XM_024450854.1:c.2352dup	XP_024306622.1:p.Ala785CysfsTer?
XM_024450855.1:c.2271dup	XP_024306623.1:p.Ala758CysfsTer?
XM_024450856.1:c.2190dup	XP_024306624.1:p.Ala731CysfsTer?
XM_024450857.1:c.2190dup	XP_024306625.1:p.Ala731CysfsTer?
XM_024450858.1:c.2109dup	XP_024306626.1:p.Ala704CysfsTer?
XM_024450859.1:c.2106dup	XP_024306627.1:p.Ala703CysfsTer?
XM_024450860.1:c.2031dup	XP_024306628.1:p.Ala678CysfsTer?
XM_024450861.1:c.2031dup	XP_024306629.1:p.Ala678CysfsTer?
XM_024450862.1:c.2028dup	XP_024306630.1:p.Ala677CysfsTer?
NM_018127.7:c.2313dup MANE Select	NP_060597.4:p.Ala772CysfsTer?
NM_001165962.2:c.2193dup	NP_001159434.1:p.Ala732CysfsTer?
NM_173717.2:c.2310dup	NP_776065.1:p.Ala771CysfsTer?