Canonical Allele Identifier: CA912969885

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50732333dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524288dup , CM000672.2:g.49524288dup	GRCh38
NC_000010.10:g.50732334dup , CM000672.1:g.50732334dup	GRCh37
NC_000010.9:g.50402340dup	NCBI36
NG_009442.1:g.19815dup , LRG_465:g.19815dup
NG_033155.1:g.4995dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1143dup MANE Select	ENSP00000348089.5:p.Glu382ArgfsTer5
ENST00000447839.7:c.1143dup MANE Plus Clinical	ENSP00000387966.2:p.Glu382ArgfsTer5
ENST00000679596.1:c.*772dup	ENSP00000504862.1:n.*772dup
ENST00000679811.1:n.1226dup
ENST00000680107.1:c.652+4130dup	ENSP00000505909.1:n.652+4130dup
ENST00000680233.1:n.1236dup
ENST00000681632.1:n.1221dup
ENST00000681659.1:c.1143dup	ENSP00000505631.1:p.Glu382ArgfsTer5
ENST00000355832.9:c.1143dup	ENSP00000348089.5:p.Glu382ArgfsTer5
ENST00000447839.6:c.1143dup	ENSP00000387966.2:p.Glu382ArgfsTer5
ENST00000515869.1:c.1143dup	ENSP00000423550.1:p.Glu382ArgfsTer5
NM_000124.3:c.1143dup	NP_000115.1:p.Glu382ArgfsTer5
NM_001277058.1:c.1143dup	NP_001263987.1:p.Glu382ArgfsTer5
NM_001277059.1:c.1143dup	NP_001263988.1:p.Glu382ArgfsTer5
NM_001346440.1:c.1143dup	NP_001333369.1:p.Glu382ArgfsTer5
NM_000124.4:c.1143dup MANE Select	NP_000115.1:p.Glu382ArgfsTer5
NM_001277058.2:c.1143dup MANE Plus Clinical	NP_001263987.1:p.Glu382ArgfsTer5
NM_001277059.2:c.1143dup	NP_001263988.1:p.Glu382ArgfsTer5
NM_001346440.2:c.1143dup	NP_001333369.1:p.Glu382ArgfsTer5