Canonical Allele Identifier: CA2787931200

Gene: ERCC6 PGBD3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524200_49524201del , CM000672.2:g.49524200_49524201del	GRCh38
NC_000010.10:g.50732246_50732247del , CM000672.1:g.50732246_50732247del	GRCh37
NC_000010.9:g.50402252_50402253del	NCBI36
NG_009442.1:g.19902_19903del , LRG_465:g.19902_19903del
NG_033155.1:g.5082_5083del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1230_1231del (ERCC6) MANE Select	ENSP00000348089.5:p.Gly411GlufsTer12
ENST00000447839.7:c.1230_1231del (ERCC6) MANE Plus Clinical	ENSP00000387966.2:p.Gly411GlufsTer12
ENST00000679596.1:c.*859_*860del (ERCC6)	ENSP00000504862.1:n.*859_*860del
ENST00000679811.1:n.1313_1314del (ERCC6)
ENST00000680107.1:c.652+4217_652+4218del (ERCC6)	ENSP00000505909.1:n.652+4217_652+4218del
ENST00000680233.1:n.1323_1324del (ERCC6)
ENST00000681632.1:n.1308_1309del (ERCC6)
ENST00000681659.1:c.1230_1231del (ERCC6)	ENSP00000505631.1:p.Gly411GlufsTer12
ENST00000355832.9:c.1230_1231del (ERCC6)	ENSP00000348089.5:p.Gly411GlufsTer12
ENST00000374127.3:c.-175_-174del	ENSP00000363242.3:n.-175_-174del
ENST00000447839.6:c.1230_1231del	ENSP00000387966.2:p.Gly411GlufsTer12
ENST00000515869.1:c.1230_1231del	ENSP00000423550.1:p.Gly411GlufsTer12
NM_000124.3:c.1230_1231del (ERCC6)	NP_000115.1:p.Gly411GlufsTer12
NM_001277058.1:c.1230_1231del	NP_001263987.1:p.Gly411GlufsTer12
NM_001277059.1:c.1230_1231del	NP_001263988.1:p.Gly411GlufsTer12
NM_170753.3:c.-175_-174del (PGBD3)	NP_736609.2:n.-175_-174del
NM_001346440.1:c.1230_1231del (ERCC6)	NP_001333369.1:p.Gly411GlufsTer12
NM_000124.4:c.1230_1231del (ERCC6) MANE Select	NP_000115.1:p.Gly411GlufsTer12
NM_001277058.2:c.1230_1231del (ERCC6) MANE Plus Clinical	NP_001263987.1:p.Gly411GlufsTer12
NM_001277059.2:c.1230_1231del (ERCC6)	NP_001263988.1:p.Gly411GlufsTer12
NM_001346440.2:c.1230_1231del (ERCC6)	NP_001333369.1:p.Gly411GlufsTer12