Canonical Allele Identifier: CA2574544985

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524284_49524286del , CM000672.2:g.49524284_49524286del	GRCh38
NC_000010.10:g.50732330_50732332del , CM000672.1:g.50732330_50732332del	GRCh37
NC_000010.9:g.50402336_50402338del	NCBI36
NG_009442.1:g.19821_19823del , LRG_465:g.19821_19823del
NG_033155.1:g.5001_5003del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1149_1151del MANE Select	ENSP00000348089.5:p.Glu384del
ENST00000447839.7:c.1149_1151del MANE Plus Clinical	ENSP00000387966.2:p.Glu384del
ENST00000679596.1:c.*778_*780del	ENSP00000504862.1:n.*778_*780del
ENST00000679811.1:n.1232_1234del
ENST00000680107.1:c.652+4136_652+4138del	ENSP00000505909.1:n.652+4136_652+4138del
ENST00000680233.1:n.1242_1244del
ENST00000681632.1:n.1227_1229del
ENST00000681659.1:c.1149_1151del	ENSP00000505631.1:p.Glu384del
ENST00000355832.9:c.1149_1151del	ENSP00000348089.5:p.Glu384del
ENST00000447839.6:c.1149_1151del	ENSP00000387966.2:p.Glu384del
ENST00000515869.1:c.1149_1151del	ENSP00000423550.1:p.Glu384del
NM_000124.3:c.1149_1151del	NP_000115.1:p.Glu384del
NM_001277058.1:c.1149_1151del	NP_001263987.1:p.Glu384del
NM_001277059.1:c.1149_1151del	NP_001263988.1:p.Glu384del
NM_001346440.1:c.1149_1151del	NP_001333369.1:p.Glu384del
NM_000124.4:c.1149_1151del MANE Select	NP_000115.1:p.Glu384del
NM_001277058.2:c.1149_1151del MANE Plus Clinical	NP_001263987.1:p.Glu384del
NM_001277059.2:c.1149_1151del	NP_001263988.1:p.Glu384del
NM_001346440.2:c.1149_1151del	NP_001333369.1:p.Glu384del