Canonical Allele Identifier: CA658822524

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 553324
• ClinVar RCV Id: RCV000668743
• dbSNP Id: rs1554793268
• MyVariant Identifiers: chr10:g.49524288_49524296dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524290_49524298dup , CM000672.2:g.49524290_49524298dup	GRCh38
NC_000010.10:g.50732336_50732344dup , CM000672.1:g.50732336_50732344dup	GRCh37
NC_000010.9:g.50402342_50402350dup	NCBI36
NG_009442.1:g.19806_19814dup , LRG_465:g.19806_19814dup
NG_033155.1:g.4986_4994dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1134_1142dup MANE Select	ENSP00000348089.5:p.Glu381_Glu382insGluGluGlu
ENST00000447839.7:c.1134_1142dup MANE Plus Clinical	ENSP00000387966.2:p.Glu381_Glu382insGluGluGlu
ENST00000679596.1:c.*763_*771dup	ENSP00000504862.1:n.*763_*771dup
ENST00000679811.1:n.1217_1225dup
ENST00000680107.1:c.652+4121_652+4129dup	ENSP00000505909.1:n.652+4121_652+4129dup
ENST00000680233.1:n.1227_1235dup
ENST00000681632.1:n.1212_1220dup
ENST00000681659.1:c.1134_1142dup	ENSP00000505631.1:p.Glu381_Glu382insGluGluGlu
ENST00000355832.9:c.1134_1142dup	ENSP00000348089.5:p.Glu381_Glu382insGluGluGlu
ENST00000447839.6:c.1134_1142dup	ENSP00000387966.2:p.Glu381_Glu382insGluGluGlu
ENST00000515869.1:c.1134_1142dup	ENSP00000423550.1:p.Glu381_Glu382insGluGluGlu
NM_000124.3:c.1134_1142dup	NP_000115.1:p.Glu381_Glu382insGluGluGlu
NM_001277058.1:c.1134_1142dup	NP_001263987.1:p.Glu381_Glu382insGluGluGlu
NM_001277059.1:c.1134_1142dup	NP_001263988.1:p.Glu381_Glu382insGluGluGlu
NM_001346440.1:c.1134_1142dup	NP_001333369.1:p.Glu381_Glu382insGluGluGlu
NM_000124.4:c.1134_1142dup MANE Select	NP_000115.1:p.Glu381_Glu382insGluGluGlu
NM_001277058.2:c.1134_1142dup MANE Plus Clinical	NP_001263987.1:p.Glu381_Glu382insGluGluGlu
NM_001277059.2:c.1134_1142dup	NP_001263988.1:p.Glu381_Glu382insGluGluGlu
NM_001346440.2:c.1134_1142dup	NP_001333369.1:p.Glu381_Glu382insGluGluGlu