Canonical Allele Identifier: CA726211321

Gene: ELAC2

Linked Data

• dbSNP Id: rs1287463336
• gnomAD v3: 17-12992906-TC-T
• gnomAD v4: 17-12992906-TC-T
• MyVariant Identifiers: chr17:g.12896224del (hg19) ; chr17:g.12992907del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992909del , CM000679.2:g.12992909del	GRCh38
NC_000017.10:g.12896226del , CM000679.1:g.12896226del	GRCh37
NC_000017.9:g.12836951del	NCBI36
NG_015808.1:g.30158del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2392del MANE Select	ENSP00000337445.4:p.Glu798SerfsTer?
ENST00000338034.8:c.2392del	ENSP00000337445.4:p.Glu798SerfsTer?
ENST00000395962.6:c.2335del	ENSP00000379291.1:p.Glu779SerfsTer?
ENST00000426905.7:c.2272del	ENSP00000405223.3:p.Glu758SerfsTer?
ENST00000465825.5:n.2279del
ENST00000480891.5:n.2221del
ENST00000484122.5:n.3222del
ENST00000487229.6:n.1938del
ENST00000584650.5:c.1791del
NM_001165962.1:c.2272del	NP_001159434.1:p.Glu758SerfsTer?
NM_018127.6:c.2392del	NP_060597.4:p.Glu798SerfsTer?
NM_173717.1:c.2389del	NP_776065.1:p.Glu797SerfsTer?
XM_024450850.1:c.2551del	XP_024306618.1:p.Glu851SerfsTer?
XM_024450851.1:c.2473del	XP_024306619.1:p.Glu825SerfsTer?
XM_024450852.1:c.2470del	XP_024306620.1:p.Glu824SerfsTer?
XM_024450853.1:c.2467del	XP_024306621.1:p.Glu823SerfsTer?
XM_024450854.1:c.2431del	XP_024306622.1:p.Glu811SerfsTer?
XM_024450855.1:c.2350del	XP_024306623.1:p.Glu784SerfsTer?
XM_024450856.1:c.2269del	XP_024306624.1:p.Glu757SerfsTer?
XM_024450857.1:c.2269del	XP_024306625.1:p.Glu757SerfsTer?
XM_024450858.1:c.2188del	XP_024306626.1:p.Glu730SerfsTer?
XM_024450859.1:c.2185del	XP_024306627.1:p.Glu729SerfsTer?
XM_024450860.1:c.2110del	XP_024306628.1:p.Glu704SerfsTer?
XM_024450861.1:c.2110del	XP_024306629.1:p.Glu704SerfsTer?
XM_024450862.1:c.2107del	XP_024306630.1:p.Glu703SerfsTer?
NM_018127.7:c.2392del MANE Select	NP_060597.4:p.Glu798SerfsTer?
NM_001165962.2:c.2272del	NP_001159434.1:p.Glu758SerfsTer?
NM_173717.2:c.2389del	NP_776065.1:p.Glu797SerfsTer?