Canonical Allele Identifier: CA288075178

Gene: ELAC2

Linked Data

• dbSNP Id: rs878944913
• MyVariant Identifiers: chr17:g.12896364_12896375del (hg19) ; chr17:g.12993047_12993058del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993056_12993067del , CM000679.2:g.12993056_12993067del	GRCh38
NC_000017.10:g.12896373_12896384del , CM000679.1:g.12896373_12896384del	GRCh37
NC_000017.9:g.12837098_12837109del	NCBI36
NG_015808.1:g.30007_30018del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2254-13_2254-2del MANE Select	ENSP00000337445.4:n.2254-13_2254-2del
ENST00000338034.8:c.2254-13_2254-2del	ENSP00000337445.4:n.2254-13_2254-2del
ENST00000395962.6:c.2197-13_2197-2del	ENSP00000379291.1:n.2197-13_2197-2del
ENST00000426905.7:c.2134-13_2134-2del	ENSP00000405223.3:n.2134-13_2134-2del
ENST00000465825.5:n.2141-13_2141-2del
ENST00000480891.5:n.2083-13_2083-2del
ENST00000484122.5:n.3084-13_3084-2del
ENST00000487229.6:n.1800-13_1800-2del
ENST00000584650.5:c.1653-13_1653-2del
NM_001165962.1:c.2134-13_2134-2del	NP_001159434.1:n.2134-13_2134-2del
NM_018127.6:c.2254-13_2254-2del	NP_060597.4:n.2254-13_2254-2del
NM_173717.1:c.2251-13_2251-2del	NP_776065.1:n.2251-13_2251-2del
XM_024450850.1:c.2413-13_2413-2del	XP_024306618.1:n.2413-13_2413-2del
XM_024450851.1:c.2335-13_2335-2del	XP_024306619.1:n.2335-13_2335-2del
XM_024450852.1:c.2332-13_2332-2del	XP_024306620.1:n.2332-13_2332-2del
XM_024450853.1:c.2329-13_2329-2del	XP_024306621.1:n.2329-13_2329-2del
XM_024450854.1:c.2293-13_2293-2del	XP_024306622.1:n.2293-13_2293-2del
XM_024450855.1:c.2212-13_2212-2del	XP_024306623.1:n.2212-13_2212-2del
XM_024450856.1:c.2131-13_2131-2del	XP_024306624.1:n.2131-13_2131-2del
XM_024450857.1:c.2131-13_2131-2del	XP_024306625.1:n.2131-13_2131-2del
XM_024450858.1:c.2050-13_2050-2del	XP_024306626.1:n.2050-13_2050-2del
XM_024450859.1:c.2047-13_2047-2del	XP_024306627.1:n.2047-13_2047-2del
XM_024450860.1:c.1972-13_1972-2del	XP_024306628.1:n.1972-13_1972-2del
XM_024450861.1:c.1972-13_1972-2del	XP_024306629.1:n.1972-13_1972-2del
XM_024450862.1:c.1969-13_1969-2del	XP_024306630.1:n.1969-13_1969-2del
NM_018127.7:c.2254-13_2254-2del MANE Select	NP_060597.4:n.2254-13_2254-2del
NM_001165962.2:c.2134-13_2134-2del	NP_001159434.1:n.2134-13_2134-2del
NM_173717.2:c.2251-13_2251-2del	NP_776065.1:n.2251-13_2251-2del