Canonical Allele Identifier: CA2636193351

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12993001-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993006del , CM000679.2:g.12993006del	GRCh38
NC_000017.10:g.12896323del , CM000679.1:g.12896323del	GRCh37
NC_000017.9:g.12837048del	NCBI36
NG_015808.1:g.30063del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2297del MANE Select	ENSP00000337445.4:p.Pro766HisfsTer2
ENST00000338034.8:c.2297del	ENSP00000337445.4:p.Pro766HisfsTer2
ENST00000395962.6:c.2240del	ENSP00000379291.1:p.Pro747HisfsTer2
ENST00000426905.7:c.2177del	ENSP00000405223.3:p.Pro726HisfsTer2
ENST00000465825.5:n.2184del
ENST00000480891.5:n.2126del
ENST00000484122.5:n.3127del
ENST00000487229.6:n.1843del
ENST00000584650.5:c.1696del
NM_001165962.1:c.2177del	NP_001159434.1:p.Pro726HisfsTer2
NM_018127.6:c.2297del	NP_060597.4:p.Pro766HisfsTer2
NM_173717.1:c.2294del	NP_776065.1:p.Pro765HisfsTer2
XM_024450850.1:c.2456del	XP_024306618.1:p.Pro819HisfsTer2
XM_024450851.1:c.2378del	XP_024306619.1:p.Pro793HisfsTer2
XM_024450852.1:c.2375del	XP_024306620.1:p.Pro792HisfsTer2
XM_024450853.1:c.2372del	XP_024306621.1:p.Pro791HisfsTer2
XM_024450854.1:c.2336del	XP_024306622.1:p.Pro779HisfsTer2
XM_024450855.1:c.2255del	XP_024306623.1:p.Pro752HisfsTer2
XM_024450856.1:c.2174del	XP_024306624.1:p.Pro725HisfsTer2
XM_024450857.1:c.2174del	XP_024306625.1:p.Pro725HisfsTer2
XM_024450858.1:c.2093del	XP_024306626.1:p.Pro698HisfsTer2
XM_024450859.1:c.2090del	XP_024306627.1:p.Pro697HisfsTer2
XM_024450860.1:c.2015del	XP_024306628.1:p.Pro672HisfsTer2
XM_024450861.1:c.2015del	XP_024306629.1:p.Pro672HisfsTer2
XM_024450862.1:c.2012del	XP_024306630.1:p.Pro671HisfsTer2
NM_018127.7:c.2297del MANE Select	NP_060597.4:p.Pro766HisfsTer2
NM_001165962.2:c.2177del	NP_001159434.1:p.Pro726HisfsTer2
NM_173717.2:c.2294del	NP_776065.1:p.Pro765HisfsTer2