Canonical Allele Identifier: CA2573153038

Gene: ELAC2

Linked Data

• ClinVar Variation Id: 1376313
• ClinVar RCV Id: RCV001885825
• dbSNP Id: rs2143539521
• gnomAD v4: 17-12992888-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992890del , CM000679.2:g.12992890del	GRCh38
NC_000017.10:g.12896207del , CM000679.1:g.12896207del	GRCh37
NC_000017.9:g.12836932del	NCBI36
NG_015808.1:g.30176del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2410del MANE Select	ENSP00000337445.4:p.Glu804ArgfsTer?
ENST00000338034.8:c.2410del	ENSP00000337445.4:p.Glu804ArgfsTer?
ENST00000395962.6:c.2353del	ENSP00000379291.1:p.Glu785ArgfsTer?
ENST00000426905.7:c.2290del	ENSP00000405223.3:p.Glu764ArgfsTer?
ENST00000465825.5:n.2297del
ENST00000480891.5:n.2239del
ENST00000484122.5:n.3240del
ENST00000487229.6:n.1956del
ENST00000584650.5:c.1809del
NM_001165962.1:c.2290del	NP_001159434.1:p.Glu764ArgfsTer?
NM_018127.6:c.2410del	NP_060597.4:p.Glu804ArgfsTer?
NM_173717.1:c.2407del	NP_776065.1:p.Glu803ArgfsTer?
XM_024450850.1:c.2569del	XP_024306618.1:p.Glu857ArgfsTer?
XM_024450851.1:c.2491del	XP_024306619.1:p.Glu831ArgfsTer?
XM_024450852.1:c.2488del	XP_024306620.1:p.Glu830ArgfsTer?
XM_024450853.1:c.2485del	XP_024306621.1:p.Glu829ArgfsTer?
XM_024450854.1:c.2449del	XP_024306622.1:p.Glu817ArgfsTer?
XM_024450855.1:c.2368del	XP_024306623.1:p.Glu790ArgfsTer?
XM_024450856.1:c.2287del	XP_024306624.1:p.Glu763ArgfsTer?
XM_024450857.1:c.2287del	XP_024306625.1:p.Glu763ArgfsTer?
XM_024450858.1:c.2206del	XP_024306626.1:p.Glu736ArgfsTer?
XM_024450859.1:c.2203del	XP_024306627.1:p.Glu735ArgfsTer?
XM_024450860.1:c.2128del	XP_024306628.1:p.Glu710ArgfsTer?
XM_024450861.1:c.2128del	XP_024306629.1:p.Glu710ArgfsTer?
XM_024450862.1:c.2125del	XP_024306630.1:p.Glu709ArgfsTer?
NM_018127.7:c.2410del MANE Select	NP_060597.4:p.Glu804ArgfsTer?
NM_001165962.2:c.2290del	NP_001159434.1:p.Glu764ArgfsTer?
NM_173717.2:c.2407del	NP_776065.1:p.Glu803ArgfsTer?