Canonical Allele Identifier: CA5496357

Gene: ERCC6 PGBD3

Linked Data

• dbSNP Id: rs375008842
• ExAC: 10:50732200 AGTC / A
• gnomAD v2: 10-50732200-AGTC-A
• gnomAD v3: 10-49524154-AGTC-A
• gnomAD v4: 10-49524154-AGTC-A
• MyVariant Identifiers: chr10:g.50732201_50732203del (hg19) ; chr10:g.49524155_49524157del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524155_49524157del , CM000672.2:g.49524155_49524157del	GRCh38
NC_000010.10:g.50732201_50732203del , CM000672.1:g.50732201_50732203del	GRCh37
NC_000010.9:g.50402207_50402209del	NCBI36
NG_009442.1:g.19945_19947del , LRG_465:g.19945_19947del
NG_033155.1:g.5125_5127del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1273_1275del (ERCC6) MANE Select	ENSP00000348089.5:p.Asp425del
ENST00000447839.7:c.1273_1275del (ERCC6) MANE Plus Clinical	ENSP00000387966.2:p.Asp425del
ENST00000679596.1:c.*902_*904del (ERCC6)	ENSP00000504862.1:n.*902_*904del
ENST00000679811.1:n.1356_1358del (ERCC6)
ENST00000680107.1:c.652+4260_652+4262del (ERCC6)	ENSP00000505909.1:n.652+4260_652+4262del
ENST00000680233.1:n.1366_1368del (ERCC6)
ENST00000681632.1:n.1351_1353del (ERCC6)
ENST00000681659.1:c.1273_1275del (ERCC6)	ENSP00000505631.1:p.Asp425del
ENST00000355832.9:c.1273_1275del (ERCC6)	ENSP00000348089.5:p.Asp425del
ENST00000374127.3:c.-132_-130del	ENSP00000363242.3:n.-132_-130del
ENST00000447839.6:c.1273_1275del	ENSP00000387966.2:p.Asp425del
ENST00000515869.1:c.1273_1275del	ENSP00000423550.1:p.Asp425del
NM_000124.3:c.1273_1275del (ERCC6)	NP_000115.1:p.Asp425del
NM_001277058.1:c.1273_1275del	NP_001263987.1:p.Asp425del
NM_001277059.1:c.1273_1275del	NP_001263988.1:p.Asp425del
NM_170753.3:c.-132_-130del (PGBD3)	NP_736609.2:n.-132_-130del
NM_001346440.1:c.1273_1275del (ERCC6)	NP_001333369.1:p.Asp425del
NM_000124.4:c.1273_1275del (ERCC6) MANE Select	NP_000115.1:p.Asp425del
NM_001277058.2:c.1273_1275del (ERCC6) MANE Plus Clinical	NP_001263987.1:p.Asp425del
NM_001277059.2:c.1273_1275del (ERCC6)	NP_001263988.1:p.Asp425del
NM_001346440.2:c.1273_1275del (ERCC6)	NP_001333369.1:p.Asp425del