Canonical Allele Identifier: CA2739265353

Gene: ERCC6 PGBD3

Linked Data

• ClinVar Variation Id: 2822826
• ClinVar RCV Id: RCV003714265

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524184_49524187del , CM000672.2:g.49524184_49524187del	GRCh38
NC_000010.10:g.50732230_50732233del , CM000672.1:g.50732230_50732233del	GRCh37
NC_000010.9:g.50402236_50402239del	NCBI36
NG_009442.1:g.19918_19921del , LRG_465:g.19918_19921del
NG_033155.1:g.5098_5101del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1246_1249del (ERCC6) MANE Select	ENSP00000348089.5:p.Lys416CysfsTer23
ENST00000447839.7:c.1246_1249del (ERCC6) MANE Plus Clinical	ENSP00000387966.2:p.Lys416CysfsTer23
ENST00000679596.1:c.*875_*878del (ERCC6)	ENSP00000504862.1:n.*875_*878del
ENST00000679811.1:n.1329_1332del (ERCC6)
ENST00000680107.1:c.652+4233_652+4236del (ERCC6)	ENSP00000505909.1:n.652+4233_652+4236del
ENST00000680233.1:n.1339_1342del (ERCC6)
ENST00000681632.1:n.1324_1327del (ERCC6)
ENST00000681659.1:c.1246_1249del (ERCC6)	ENSP00000505631.1:p.Lys416CysfsTer23
ENST00000355832.9:c.1246_1249del (ERCC6)	ENSP00000348089.5:p.Lys416CysfsTer23
ENST00000374127.3:c.-159_-156del	ENSP00000363242.3:n.-159_-156del
ENST00000447839.6:c.1246_1249del	ENSP00000387966.2:p.Lys416CysfsTer23
ENST00000515869.1:c.1246_1249del	ENSP00000423550.1:p.Lys416CysfsTer23
NM_000124.3:c.1246_1249del (ERCC6)	NP_000115.1:p.Lys416CysfsTer23
NM_001277058.1:c.1246_1249del	NP_001263987.1:p.Lys416CysfsTer23
NM_001277059.1:c.1246_1249del	NP_001263988.1:p.Lys416CysfsTer23
NM_170753.3:c.-159_-156del (PGBD3)	NP_736609.2:n.-159_-156del
NM_001346440.1:c.1246_1249del (ERCC6)	NP_001333369.1:p.Lys416CysfsTer23
NM_000124.4:c.1246_1249del (ERCC6) MANE Select	NP_000115.1:p.Lys416CysfsTer23
NM_001277058.2:c.1246_1249del (ERCC6) MANE Plus Clinical	NP_001263987.1:p.Lys416CysfsTer23
NM_001277059.2:c.1246_1249del (ERCC6)	NP_001263988.1:p.Lys416CysfsTer23
NM_001346440.2:c.1246_1249del (ERCC6)	NP_001333369.1:p.Lys416CysfsTer23