Canonical Allele Identifier: CA2787931203

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524289_49524290insAGT , CM000672.2:g.49524289_49524290insAGT	GRCh38
NC_000010.10:g.50732335_50732336insAGT , CM000672.1:g.50732335_50732336insAGT	GRCh37
NC_000010.9:g.50402341_50402342insAGT	NCBI36
NG_009442.1:g.19812_19813insACT , LRG_465:g.19812_19813insACT
NG_033155.1:g.4992_4993insACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1140_1141insACT MANE Select	ENSP00000348089.5:p.Glu380_Glu381insThr
ENST00000447839.7:c.1140_1141insACT MANE Plus Clinical	ENSP00000387966.2:p.Glu380_Glu381insThr
ENST00000679596.1:c.*769_*770insACT	ENSP00000504862.1:n.*769_*770insACT
ENST00000679811.1:n.1223_1224insACT
ENST00000680107.1:c.652+4127_652+4128insACT	ENSP00000505909.1:n.652+4127_652+4128insACT
ENST00000680233.1:n.1233_1234insACT
ENST00000681632.1:n.1218_1219insACT
ENST00000681659.1:c.1140_1141insACT	ENSP00000505631.1:p.Glu380_Glu381insThr
ENST00000355832.9:c.1140_1141insACT	ENSP00000348089.5:p.Glu380_Glu381insThr
ENST00000447839.6:c.1140_1141insACT	ENSP00000387966.2:p.Glu380_Glu381insThr
ENST00000515869.1:c.1140_1141insACT	ENSP00000423550.1:p.Glu380_Glu381insThr
NM_000124.3:c.1140_1141insACT	NP_000115.1:p.Glu380_Glu381insThr
NM_001277058.1:c.1140_1141insACT	NP_001263987.1:p.Glu380_Glu381insThr
NM_001277059.1:c.1140_1141insACT	NP_001263988.1:p.Glu380_Glu381insThr
NM_001346440.1:c.1140_1141insACT	NP_001333369.1:p.Glu380_Glu381insThr
NM_000124.4:c.1140_1141insACT MANE Select	NP_000115.1:p.Glu380_Glu381insThr
NM_001277058.2:c.1140_1141insACT MANE Plus Clinical	NP_001263987.1:p.Glu380_Glu381insThr
NM_001277059.2:c.1140_1141insACT	NP_001263988.1:p.Glu380_Glu381insThr
NM_001346440.2:c.1140_1141insACT	NP_001333369.1:p.Glu380_Glu381insThr