Canonical Allele Identifier: CA2580081555

Gene: ERCC6 PGBD3

Linked Data

• ClinVar Variation Id: 1724728
• ClinVar RCV Id: RCV002309996

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524217_49524218del , CM000672.2:g.49524217_49524218del	GRCh38
NC_000010.10:g.50732263_50732264del , CM000672.1:g.50732263_50732264del	GRCh37
NC_000010.9:g.50402269_50402270del	NCBI36
NG_009442.1:g.19884_19885del , LRG_465:g.19884_19885del
NG_033155.1:g.5064_5065del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1212_1213del (ERCC6) MANE Select	ENSP00000348089.5:p.Lys405AlafsTer18
ENST00000447839.7:c.1212_1213del (ERCC6) MANE Plus Clinical	ENSP00000387966.2:p.Lys405AlafsTer18
ENST00000679596.1:c.*841_*842del (ERCC6)	ENSP00000504862.1:n.*841_*842del
ENST00000679811.1:n.1295_1296del (ERCC6)
ENST00000680107.1:c.652+4199_652+4200del (ERCC6)	ENSP00000505909.1:n.652+4199_652+4200del
ENST00000680233.1:n.1305_1306del (ERCC6)
ENST00000681632.1:n.1290_1291del (ERCC6)
ENST00000681659.1:c.1212_1213del (ERCC6)	ENSP00000505631.1:p.Lys405AlafsTer18
ENST00000355832.9:c.1212_1213del (ERCC6)	ENSP00000348089.5:p.Lys405AlafsTer18
ENST00000374127.3:c.-193_-192del	ENSP00000363242.3:n.-193_-192del
ENST00000447839.6:c.1212_1213del	ENSP00000387966.2:p.Lys405AlafsTer18
ENST00000515869.1:c.1212_1213del	ENSP00000423550.1:p.Lys405AlafsTer18
NM_000124.3:c.1212_1213del (ERCC6)	NP_000115.1:p.Lys405AlafsTer18
NM_001277058.1:c.1212_1213del	NP_001263987.1:p.Lys405AlafsTer18
NM_001277059.1:c.1212_1213del	NP_001263988.1:p.Lys405AlafsTer18
NM_170753.3:c.-193_-192del (PGBD3)	NP_736609.2:n.-193_-192del
NM_001346440.1:c.1212_1213del (ERCC6)	NP_001333369.1:p.Lys405AlafsTer18
NM_000124.4:c.1212_1213del (ERCC6) MANE Select	NP_000115.1:p.Lys405AlafsTer18
NM_001277058.2:c.1212_1213del (ERCC6) MANE Plus Clinical	NP_001263987.1:p.Lys405AlafsTer18
NM_001277059.2:c.1212_1213del (ERCC6)	NP_001263988.1:p.Lys405AlafsTer18
NM_001346440.2:c.1212_1213del (ERCC6)	NP_001333369.1:p.Lys405AlafsTer18