Canonical Allele Identifier: CA2580615466

Gene: ERCC6 PGBD3

Linked Data

• ClinVar Variation Id: 1914277
• ClinVar RCV Id: RCV002590348

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524105_49524107dup , CM000672.2:g.49524105_49524107dup	GRCh38
NC_000010.10:g.50732151_50732153dup , CM000672.1:g.50732151_50732153dup	GRCh37
NC_000010.9:g.50402157_50402159dup	NCBI36
NG_009442.1:g.20007_20009dup , LRG_465:g.20007_20009dup
NG_033155.1:g.5187_5189dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1335_1337dup (ERCC6) MANE Select	ENSP00000348089.5:p.Gly446_Arg447insGly
ENST00000447839.7:c.1335_1337dup (ERCC6) MANE Plus Clinical	ENSP00000387966.2:p.Gly446_Arg447insGly
ENST00000679596.1:c.*964_*966dup (ERCC6)	ENSP00000504862.1:n.*964_*966dup
ENST00000679811.1:n.1418_1420dup (ERCC6)
ENST00000680107.1:c.652+4322_652+4324dup (ERCC6)	ENSP00000505909.1:n.652+4322_652+4324dup
ENST00000680233.1:n.1428_1430dup (ERCC6)
ENST00000681632.1:n.1413_1415dup (ERCC6)
ENST00000681659.1:c.1335_1337dup (ERCC6)	ENSP00000505631.1:p.Gly446_Arg447insGly
ENST00000355832.9:c.1335_1337dup (ERCC6)	ENSP00000348089.5:p.Gly446_Arg447insGly
ENST00000374127.3:c.-70_-68dup	ENSP00000363242.3:n.-70_-68dup
ENST00000447839.6:c.1335_1337dup	ENSP00000387966.2:p.Gly446_Arg447insGly
ENST00000515869.1:c.1335_1337dup	ENSP00000423550.1:p.Gly446_Arg447insGly
NM_000124.3:c.1335_1337dup (ERCC6)	NP_000115.1:p.Gly446_Arg447insGly
NM_001277058.1:c.1335_1337dup	NP_001263987.1:p.Gly446_Arg447insGly
NM_001277059.1:c.1335_1337dup	NP_001263988.1:p.Gly446_Arg447insGly
NM_170753.3:c.-70_-68dup (PGBD3)	NP_736609.2:n.-70_-68dup
NM_001346440.1:c.1335_1337dup (ERCC6)	NP_001333369.1:p.Gly446_Arg447insGly
NM_000124.4:c.1335_1337dup (ERCC6) MANE Select	NP_000115.1:p.Gly446_Arg447insGly
NM_001277058.2:c.1335_1337dup (ERCC6) MANE Plus Clinical	NP_001263987.1:p.Gly446_Arg447insGly
NM_001277059.2:c.1335_1337dup (ERCC6)	NP_001263988.1:p.Gly446_Arg447insGly
NM_001346440.2:c.1335_1337dup (ERCC6)	NP_001333369.1:p.Gly446_Arg447insGly