Canonical Allele Identifier: CA726211189

Gene: ELAC2

Linked Data

• ClinVar Variation Id: 656848
• ClinVar RCV Id: RCV000813353
• dbSNP Id: rs1377575423
• gnomAD v3: 17-12992851-CTCT-C
• gnomAD v4: 17-12992851-CTCT-C
• MyVariant Identifiers: chr17:g.12896169_12896171del (hg19) ; chr17:g.12992852_12992854del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992852_12992854del , CM000679.2:g.12992852_12992854del	GRCh38
NC_000017.10:g.12896169_12896171del , CM000679.1:g.12896169_12896171del	GRCh37
NC_000017.9:g.12836894_12836896del	NCBI36
NG_015808.1:g.30211_30213del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2445_2447del MANE Select	ENSP00000337445.4:p.Glu816del
ENST00000338034.8:c.2445_2447del	ENSP00000337445.4:p.Glu816del
ENST00000395962.6:c.2388_2390del	ENSP00000379291.1:p.Glu797del
ENST00000426905.7:c.2325_2327del	ENSP00000405223.3:p.Glu776del
ENST00000465825.5:n.2332_2334del
ENST00000480891.5:n.2274_2276del
ENST00000484122.5:n.3275_3277del
ENST00000487229.6:n.1991_1993del
ENST00000584650.5:c.1844_1846del
NM_001165962.1:c.2325_2327del	NP_001159434.1:p.Glu776del
NM_018127.6:c.2445_2447del	NP_060597.4:p.Glu816del
NM_173717.1:c.2442_2444del	NP_776065.1:p.Glu815del
XM_024450850.1:c.2604_2606del	XP_024306618.1:p.Glu869del
XM_024450851.1:c.2526_2528del	XP_024306619.1:p.Glu843del
XM_024450852.1:c.2523_2525del	XP_024306620.1:p.Glu842del
XM_024450853.1:c.2520_2522del	XP_024306621.1:p.Glu841del
XM_024450854.1:c.2484_2486del	XP_024306622.1:p.Glu829del
XM_024450855.1:c.2403_2405del	XP_024306623.1:p.Glu802del
XM_024450856.1:c.2322_2324del	XP_024306624.1:p.Glu775del
XM_024450857.1:c.2322_2324del	XP_024306625.1:p.Glu775del
XM_024450858.1:c.2241_2243del	XP_024306626.1:p.Glu748del
XM_024450859.1:c.2238_2240del	XP_024306627.1:p.Glu747del
XM_024450860.1:c.2163_2165del	XP_024306628.1:p.Glu722del
XM_024450861.1:c.2163_2165del	XP_024306629.1:p.Glu722del
XM_024450862.1:c.2160_2162del	XP_024306630.1:p.Glu721del
NM_018127.7:c.2445_2447del MANE Select	NP_060597.4:p.Glu816del
NM_001165962.2:c.2325_2327del	NP_001159434.1:p.Glu776del
NM_173717.2:c.2442_2444del	NP_776065.1:p.Glu815del