Canonical Allele Identifier: CA2840256619

Gene: ELAC2

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2313del MANE Select	ENSP00000337445.4:p.Phe771LeufsTer?
ENST00000338034.8:c.2313del	ENSP00000337445.4:p.Phe771LeufsTer?
ENST00000395962.6:c.2256del	ENSP00000379291.1:p.Phe752LeufsTer?
ENST00000426905.7:c.2193del	ENSP00000405223.3:p.Phe731LeufsTer?
ENST00000465825.5:n.2200del
ENST00000480891.5:n.2142del
ENST00000484122.5:n.3143del
ENST00000487229.6:n.1859del
ENST00000584650.5:c.1712del
NM_001165962.1:c.2193del	NP_001159434.1:p.Phe731LeufsTer?
NM_018127.6:c.2313del	NP_060597.4:p.Phe771LeufsTer?
NM_173717.1:c.2310del	NP_776065.1:p.Phe770LeufsTer?
XM_024450850.1:c.2472del	XP_024306618.1:p.Phe824LeufsTer?
XM_024450851.1:c.2394del	XP_024306619.1:p.Phe798LeufsTer?
XM_024450852.1:c.2391del	XP_024306620.1:p.Phe797LeufsTer?
XM_024450853.1:c.2388del	XP_024306621.1:p.Phe796LeufsTer?
XM_024450854.1:c.2352del	XP_024306622.1:p.Phe784LeufsTer?
XM_024450855.1:c.2271del	XP_024306623.1:p.Phe757LeufsTer?
XM_024450856.1:c.2190del	XP_024306624.1:p.Phe730LeufsTer?
XM_024450857.1:c.2190del	XP_024306625.1:p.Phe730LeufsTer?
XM_024450858.1:c.2109del	XP_024306626.1:p.Phe703LeufsTer?
XM_024450859.1:c.2106del	XP_024306627.1:p.Phe702LeufsTer?
XM_024450860.1:c.2031del	XP_024306628.1:p.Phe677LeufsTer?
XM_024450861.1:c.2031del	XP_024306629.1:p.Phe677LeufsTer?
XM_024450862.1:c.2028del	XP_024306630.1:p.Phe676LeufsTer?
NM_018127.7:c.2313del MANE Select	NP_060597.4:p.Phe771LeufsTer?
NM_001165962.2:c.2193del	NP_001159434.1:p.Phe731LeufsTer?
NM_173717.2:c.2310del	NP_776065.1:p.Phe770LeufsTer?