Canonical Allele Identifier: CA1908763627

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524316_49524318delinsACT , CM000672.2:g.49524316_49524318delinsACT	GRCh38
NC_000010.10:g.50732362_50732364delinsACT , CM000672.1:g.50732362_50732364delinsACT	GRCh37
NC_000010.9:g.50402368_50402370delinsACT	NCBI36
NG_009442.1:g.19784_19786delinsAGT , LRG_465:g.19784_19786delinsAGT
NG_033155.1:g.4964_4966delinsAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1112_1114delinsAGT MANE Select	ENSP00000348089.5:p.Glu371=
ENST00000447839.7:c.1112_1114delinsAGT MANE Plus Clinical	ENSP00000387966.2:p.Glu371=
ENST00000679596.1:c.*741_*743delinsAGT	ENSP00000504862.1:n.*741_*743delinsAGT
ENST00000679811.1:n.1195_1197delinsAGT
ENST00000680107.1:c.652+4099_652+4101delinsAGT	ENSP00000505909.1:n.652+4099_652+4101delinsAGT
ENST00000680233.1:n.1205_1207delinsAGT
ENST00000681632.1:n.1190_1192delinsAGT
ENST00000681659.1:c.1112_1114delinsAGT	ENSP00000505631.1:p.Glu371=
ENST00000355832.9:c.1112_1114delinsAGT	ENSP00000348089.5:p.Glu371=
ENST00000447839.6:c.1112_1114delinsAGT	ENSP00000387966.2:p.Glu371=
ENST00000515869.1:c.1112_1114delinsAGT	ENSP00000423550.1:p.Glu371=
NM_000124.3:c.1112_1114delinsAGT	NP_000115.1:p.Glu371=
NM_001277058.1:c.1112_1114delinsAGT	NP_001263987.1:p.Glu371=
NM_001277059.1:c.1112_1114delinsAGT	NP_001263988.1:p.Glu371=
NM_001346440.1:c.1112_1114delinsAGT	NP_001333369.1:p.Glu371=
NM_000124.4:c.1112_1114delinsAGT MANE Select	NP_000115.1:p.Glu371=
NM_001277058.2:c.1112_1114delinsAGT MANE Plus Clinical	NP_001263987.1:p.Glu371=
NM_001277059.2:c.1112_1114delinsAGT	NP_001263988.1:p.Glu371=
NM_001346440.2:c.1112_1114delinsAGT	NP_001333369.1:p.Glu371=