Canonical Allele Identifier: CA1908763623

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524309_49524313delinsTACTC , CM000672.2:g.49524309_49524313delinsTACTC	GRCh38
NC_000010.10:g.50732355_50732359delinsTACTC , CM000672.1:g.50732355_50732359delinsTACTC	GRCh37
NC_000010.9:g.50402361_50402365delinsTACTC	NCBI36
NG_009442.1:g.19789_19793delinsGAGTA , LRG_465:g.19789_19793delinsGAGTA
NG_033155.1:g.4969_4973delinsGAGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1117_1121delinsGAGTA MANE Select	ENSP00000348089.5:p.Glu373=
ENST00000447839.7:c.1117_1121delinsGAGTA MANE Plus Clinical	ENSP00000387966.2:p.Glu373=
ENST00000679596.1:c.*746_*750delinsGAGTA	ENSP00000504862.1:n.*746_*750delinsGAGTA
ENST00000679811.1:n.1200_1204delinsGAGTA
ENST00000680107.1:c.652+4104_652+4108delinsGAGTA	ENSP00000505909.1:n.652+4104_652+4108delinsGAGTA
ENST00000680233.1:n.1210_1214delinsGAGTA
ENST00000681632.1:n.1195_1199delinsGAGTA
ENST00000681659.1:c.1117_1121delinsGAGTA	ENSP00000505631.1:p.Glu373=
ENST00000355832.9:c.1117_1121delinsGAGTA	ENSP00000348089.5:p.Glu373=
ENST00000447839.6:c.1117_1121delinsGAGTA	ENSP00000387966.2:p.Glu373=
ENST00000515869.1:c.1117_1121delinsGAGTA	ENSP00000423550.1:p.Glu373=
NM_000124.3:c.1117_1121delinsGAGTA	NP_000115.1:p.Glu373=
NM_001277058.1:c.1117_1121delinsGAGTA	NP_001263987.1:p.Glu373=
NM_001277059.1:c.1117_1121delinsGAGTA	NP_001263988.1:p.Glu373=
NM_001346440.1:c.1117_1121delinsGAGTA	NP_001333369.1:p.Glu373=
NM_000124.4:c.1117_1121delinsGAGTA MANE Select	NP_000115.1:p.Glu373=
NM_001277058.2:c.1117_1121delinsGAGTA MANE Plus Clinical	NP_001263987.1:p.Glu373=
NM_001277059.2:c.1117_1121delinsGAGTA	NP_001263988.1:p.Glu373=
NM_001346440.2:c.1117_1121delinsGAGTA	NP_001333369.1:p.Glu373=