Canonical Allele Identifier: CA288074943

Gene: ELAC2

Linked Data

• dbSNP Id: rs386795520

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992875_12992877delinsGGC , CM000679.2:g.12992875_12992877delinsGGC	GRCh38
NC_000017.10:g.12896192_12896194delinsGGC , CM000679.1:g.12896192_12896194delinsGGC	GRCh37
NC_000017.9:g.12836917_12836919delinsGGC	NCBI36
NG_015808.1:g.30188_30190delinsGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2422_2424delinsGCC MANE Select	ENSP00000337445.4:p.Pro808Ala
ENST00000338034.8:c.2422_2424delinsGCC	ENSP00000337445.4:p.Pro808Ala
ENST00000395962.6:c.2365_2367delinsGCC	ENSP00000379291.1:p.Pro789Ala
ENST00000426905.7:c.2302_2304delinsGCC	ENSP00000405223.3:p.Pro768Ala
ENST00000465825.5:n.2309_2311delinsGCC
ENST00000480891.5:n.2251_2253delinsGCC
ENST00000484122.5:n.3252_3254delinsGCC
ENST00000487229.6:n.1968_1970delinsGCC
ENST00000584650.5:c.1821_1823delinsGCC
NM_001165962.1:c.2302_2304delinsGCC	NP_001159434.1:p.Pro768Ala
NM_018127.6:c.2422_2424delinsGCC	NP_060597.4:p.Pro808Ala
NM_173717.1:c.2419_2421delinsGCC	NP_776065.1:p.Pro807Ala
XM_024450850.1:c.2581_2583delinsGCC	XP_024306618.1:p.Pro861Ala
XM_024450851.1:c.2503_2505delinsGCC	XP_024306619.1:p.Pro835Ala
XM_024450852.1:c.2500_2502delinsGCC	XP_024306620.1:p.Pro834Ala
XM_024450853.1:c.2497_2499delinsGCC	XP_024306621.1:p.Pro833Ala
XM_024450854.1:c.2461_2463delinsGCC	XP_024306622.1:p.Pro821Ala
XM_024450855.1:c.2380_2382delinsGCC	XP_024306623.1:p.Pro794Ala
XM_024450856.1:c.2299_2301delinsGCC	XP_024306624.1:p.Pro767Ala
XM_024450857.1:c.2299_2301delinsGCC	XP_024306625.1:p.Pro767Ala
XM_024450858.1:c.2218_2220delinsGCC	XP_024306626.1:p.Pro740Ala
XM_024450859.1:c.2215_2217delinsGCC	XP_024306627.1:p.Pro739Ala
XM_024450860.1:c.2140_2142delinsGCC	XP_024306628.1:p.Pro714Ala
XM_024450861.1:c.2140_2142delinsGCC	XP_024306629.1:p.Pro714Ala
XM_024450862.1:c.2137_2139delinsGCC	XP_024306630.1:p.Pro713Ala
NM_018127.7:c.2422_2424delinsGCC MANE Select	NP_060597.4:p.Pro808Ala
NM_001165962.2:c.2302_2304delinsGCC	NP_001159434.1:p.Pro768Ala
NM_173717.2:c.2419_2421delinsGCC	NP_776065.1:p.Pro807Ala