Canonical Allele Identifier: CA10583446
Gene: ELAC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 241278
ClinVar RCV Id: RCV000233736
dbSNP Id: rs878855051

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.12992941_12992942insCCCCGATCCTCCAGGCCGCCTGCCAGCTCCCTGGACAGGAGGGCCGCCCGCACCTGCCGCAGC , CM000679.2:g.12992941_12992942insCCCCGATCCTCCAGGCCGCCTGCCAGCTCCCTGGACAGGAGGGCCGCCCGCACCTGCCGCAGC GRCh38
NC_000017.10:g.12896258_12896259insCCCCGATCCTCCAGGCCGCCTGCCAGCTCCCTGGACAGGAGGGCCGCCCGCACCTGCCGCAGC , CM000679.1:g.12896258_12896259insCCCCGATCCTCCAGGCCGCCTGCCAGCTCCCTGGACAGGAGGGCCGCCCGCACCTGCCGCAGC GRCh37
NC_000017.9:g.12836983_12836984insCCCCGATCCTCCAGGCCGCCTGCCAGCTCCCTGGACAGGAGGGCCGCCCGCACCTGCCGCAGC NCBI36
NG_015808.1:g.30181_30182insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000338034.9:c.2415_2416insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT MANE Select ENSP00000337445.4:p.Asp805_Gly806insArgGlyLeuArgGlnValArgAlaA...
ENST00000338034.8:c.2415_2416insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT ENSP00000337445.4:p.Asp805_Gly806insArgGlyLeuArgGlnValArgAlaA...
ENST00000395962.6:c.2358_2359insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT ENSP00000379291.1:p.Asp786_Gly787insArgGlyLeuArgGlnValArgAlaA...
ENST00000426905.7:c.2295_2296insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT ENSP00000405223.3:p.Asp765_Gly766insArgGlyLeuArgGlnValArgAlaA...
ENST00000465825.5:n.2302_2303insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT
ENST00000480891.5:n.2244_2245insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT
ENST00000484122.5:n.3245_3246insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT
ENST00000487229.6:n.1961_1962insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT
ENST00000584650.5:c.1814_1815insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT
NM_001165962.1:c.2295_2296insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT NP_001159434.1:p.Asp765_Gly766insArgGlyLeuArgGlnValArgAlaAlaL...
NM_018127.6:c.2415_2416insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT NP_060597.4:p.Asp805_Gly806insArgGlyLeuArgGlnValArgAlaAlaLeuL...
NM_173717.1:c.2412_2413insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT NP_776065.1:p.Asp804_Gly805insArgGlyLeuArgGlnValArgAlaAlaLeuL...
XM_024450850.1:c.2574_2575insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT XP_024306618.1:p.Asp858_Gly859insArgGlyLeuArgGlnValArgAlaAlaL...
XM_024450851.1:c.2496_2497insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT XP_024306619.1:p.Asp832_Gly833insArgGlyLeuArgGlnValArgAlaAlaL...
XM_024450852.1:c.2493_2494insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT XP_024306620.1:p.Asp831_Gly832insArgGlyLeuArgGlnValArgAlaAlaL...
XM_024450853.1:c.2490_2491insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT XP_024306621.1:p.Asp830_Gly831insArgGlyLeuArgGlnValArgAlaAlaL...
XM_024450854.1:c.2454_2455insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT XP_024306622.1:p.Asp818_Gly819insArgGlyLeuArgGlnValArgAlaAlaL...
XM_024450855.1:c.2373_2374insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT XP_024306623.1:p.Asp791_Gly792insArgGlyLeuArgGlnValArgAlaAlaL...
XM_024450856.1:c.2292_2293insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT XP_024306624.1:p.Asp764_Gly765insArgGlyLeuArgGlnValArgAlaAlaL...
XM_024450857.1:c.2292_2293insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT XP_024306625.1:p.Asp764_Gly765insArgGlyLeuArgGlnValArgAlaAlaL...
XM_024450858.1:c.2211_2212insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT XP_024306626.1:p.Asp737_Gly738insArgGlyLeuArgGlnValArgAlaAlaL...
XM_024450859.1:c.2208_2209insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT XP_024306627.1:p.Asp736_Gly737insArgGlyLeuArgGlnValArgAlaAlaL...
XM_024450860.1:c.2133_2134insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT XP_024306628.1:p.Asp711_Gly712insArgGlyLeuArgGlnValArgAlaAlaL...
XM_024450861.1:c.2133_2134insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT XP_024306629.1:p.Asp711_Gly712insArgGlyLeuArgGlnValArgAlaAlaL...
XM_024450862.1:c.2130_2131insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT XP_024306630.1:p.Asp710_Gly711insArgGlyLeuArgGlnValArgAlaAlaL...
NM_018127.7:c.2415_2416insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT MANE Select NP_060597.4:p.Asp805_Gly806insArgGlyLeuArgGlnValArgAlaAlaLeuL...
NM_001165962.2:c.2295_2296insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT NP_001159434.1:p.Asp765_Gly766insArgGlyLeuArgGlnValArgAlaAlaL...
NM_173717.2:c.2412_2413insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT NP_776065.1:p.Asp804_Gly805insArgGlyLeuArgGlnValArgAlaAlaLeuL...