Canonical Allele Identifier: CA8400800

Gene: ELAC2

Linked Data

• ClinVar Variation Id: 408865
• ClinVar RCV Id: RCV000460318 ; RCV002526419 ; RCV003942484
• dbSNP Id: rs1555571246
• ExAC: 17:12896200 C / CATCCTCCAGGCCGCCTGCCAGCTCCCTGGACAGGAGGGCCGCCCGCACCTGCCGCAGCTCCCG
• gnomAD v2: 17-12896200-C-CATCCTCCAGGCCGCCTGCCAGCTCCCTGGACAGGAGGGCCGCCCGCACCTGCCGCAGCTCCCG
• gnomAD v3: 17-12992883-C-CATCCTCCAGGCCGCCTGCCAGCTCCCTGGACAGGAGGGCCGCCCGCACCTGCCGCAGCTCCCG
• gnomAD v4: 17-12992883-C-CATCCTCCAGGCCGCCTGCCAGCTCCCTGGACAGGAGGGCCGCCCGCACCTGCCGCAGCTCCCG
• MyVariant Identifiers: chr17:g.12896201_12896263dup (hg19) ; chr17:g.12896200_12896201insATCCTCCAGGCCGCCTGCCAGCTCCCTGGACAGGAGGGCCGCCCGCACCTGCCGCAGCTCCCG (hg19) ; chr17:g.12992884_12992946dup (hg38) ; chr17:g.12992884_12992946dup63 (hg38) ; chr17:g.12992883_12992884insATCCTCCAGGCCGCCTGCCAGCTCCCTGGACAGGAGGGCCGCCCGCACCTGCCGCAGCTCCCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992884_12992946dup , CM000679.2:g.12992884_12992946dup	GRCh38
NC_000017.10:g.12896201_12896263dup , CM000679.1:g.12896201_12896263dup	GRCh37
NC_000017.9:g.12836926_12836988dup	NCBI36
NG_015808.1:g.30119_30181dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2353_2415dup MANE Select	ENSP00000337445.4:p.Asp805_Gly806insArgGluLeuArgGlnValArgAlaA...
ENST00000338034.8:c.2353_2415dup	ENSP00000337445.4:p.Asp805_Gly806insArgGluLeuArgGlnValArgAlaA...
ENST00000395962.6:c.2296_2358dup	ENSP00000379291.1:p.Asp786_Gly787insArgGluLeuArgGlnValArgAlaA...
ENST00000426905.7:c.2233_2295dup	ENSP00000405223.3:p.Asp765_Gly766insArgGluLeuArgGlnValArgAlaA...
ENST00000465825.5:n.2240_2302dup
ENST00000480891.5:n.2182_2244dup
ENST00000484122.5:n.3183_3245dup
ENST00000487229.6:n.1899_1961dup
ENST00000584650.5:c.1752_1814dup
NM_001165962.1:c.2233_2295dup	NP_001159434.1:p.Asp765_Gly766insArgGluLeuArgGlnValArgAlaAlaL...
NM_018127.6:c.2353_2415dup	NP_060597.4:p.Asp805_Gly806insArgGluLeuArgGlnValArgAlaAlaLeuL...
NM_173717.1:c.2350_2412dup	NP_776065.1:p.Asp804_Gly805insArgGluLeuArgGlnValArgAlaAlaLeuL...
XM_024450850.1:c.2512_2574dup	XP_024306618.1:p.Asp858_Gly859insArgGluLeuArgGlnValArgAlaAlaL...
XM_024450851.1:c.2434_2496dup	XP_024306619.1:p.Asp832_Gly833insArgGluLeuArgGlnValArgAlaAlaL...
XM_024450852.1:c.2431_2493dup	XP_024306620.1:p.Asp831_Gly832insArgGluLeuArgGlnValArgAlaAlaL...
XM_024450853.1:c.2428_2490dup	XP_024306621.1:p.Asp830_Gly831insArgGluLeuArgGlnValArgAlaAlaL...
XM_024450854.1:c.2392_2454dup	XP_024306622.1:p.Asp818_Gly819insArgGluLeuArgGlnValArgAlaAlaL...
XM_024450855.1:c.2311_2373dup	XP_024306623.1:p.Asp791_Gly792insArgGluLeuArgGlnValArgAlaAlaL...
XM_024450856.1:c.2230_2292dup	XP_024306624.1:p.Asp764_Gly765insArgGluLeuArgGlnValArgAlaAlaL...
XM_024450857.1:c.2230_2292dup	XP_024306625.1:p.Asp764_Gly765insArgGluLeuArgGlnValArgAlaAlaL...
XM_024450858.1:c.2149_2211dup	XP_024306626.1:p.Asp737_Gly738insArgGluLeuArgGlnValArgAlaAlaL...
XM_024450859.1:c.2146_2208dup	XP_024306627.1:p.Asp736_Gly737insArgGluLeuArgGlnValArgAlaAlaL...
XM_024450860.1:c.2071_2133dup	XP_024306628.1:p.Asp711_Gly712insArgGluLeuArgGlnValArgAlaAlaL...
XM_024450861.1:c.2071_2133dup	XP_024306629.1:p.Asp711_Gly712insArgGluLeuArgGlnValArgAlaAlaL...
XM_024450862.1:c.2068_2130dup	XP_024306630.1:p.Asp710_Gly711insArgGluLeuArgGlnValArgAlaAlaL...
NM_018127.7:c.2353_2415dup MANE Select	NP_060597.4:p.Asp805_Gly806insArgGluLeuArgGlnValArgAlaAlaLeuL...
NM_001165962.2:c.2233_2295dup	NP_001159434.1:p.Asp765_Gly766insArgGluLeuArgGlnValArgAlaAlaL...
NM_173717.2:c.2350_2412dup	NP_776065.1:p.Asp804_Gly805insArgGluLeuArgGlnValArgAlaAlaLeuL...