Canonical Allele Identifier: CA1908763522

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524275_49524287delinsATCTTCCTCCTCT , CM000672.2:g.49524275_49524287delinsATCTTCCTCCTCT	GRCh38
NC_000010.10:g.50732321_50732333delinsATCTTCCTCCTCT , CM000672.1:g.50732321_50732333delinsATCTTCCTCCTCT	GRCh37
NC_000010.9:g.50402327_50402339delinsATCTTCCTCCTCT	NCBI36
NG_009442.1:g.19815_19827delinsAGAGGAGGAAGAT , LRG_465:g.19815_19827delinsAGAGGAGGAAGAT
NG_033155.1:g.4995_5007delinsAGAGGAGGAAGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1143_1155delinsAGAGGAGGAAGAT MANE Select	ENSP00000348089.5:p.Glu381=
ENST00000447839.7:c.1143_1155delinsAGAGGAGGAAGAT MANE Plus Clinical	ENSP00000387966.2:p.Glu381=
ENST00000679596.1:c.*772_*784delinsAGAGGAGGAAGAT	ENSP00000504862.1:n.*772_*784delinsAGAGGAGGAAGAT
ENST00000679811.1:n.1226_1238delinsAGAGGAGGAAGAT
ENST00000680107.1:c.652+4130_652+4142delinsAGAGGAGGAAGAT	ENSP00000505909.1:n.652+4130_652+4142delinsAGAGGAGGAAGAT
ENST00000680233.1:n.1236_1248delinsAGAGGAGGAAGAT
ENST00000681632.1:n.1221_1233delinsAGAGGAGGAAGAT
ENST00000681659.1:c.1143_1155delinsAGAGGAGGAAGAT	ENSP00000505631.1:p.Glu381=
ENST00000355832.9:c.1143_1155delinsAGAGGAGGAAGAT	ENSP00000348089.5:p.Glu381=
ENST00000447839.6:c.1143_1155delinsAGAGGAGGAAGAT	ENSP00000387966.2:p.Glu381=
ENST00000515869.1:c.1143_1155delinsAGAGGAGGAAGAT	ENSP00000423550.1:p.Glu381=
NM_000124.3:c.1143_1155delinsAGAGGAGGAAGAT	NP_000115.1:p.Glu381=
NM_001277058.1:c.1143_1155delinsAGAGGAGGAAGAT	NP_001263987.1:p.Glu381=
NM_001277059.1:c.1143_1155delinsAGAGGAGGAAGAT	NP_001263988.1:p.Glu381=
NM_001346440.1:c.1143_1155delinsAGAGGAGGAAGAT	NP_001333369.1:p.Glu381=
NM_000124.4:c.1143_1155delinsAGAGGAGGAAGAT MANE Select	NP_000115.1:p.Glu381=
NM_001277058.2:c.1143_1155delinsAGAGGAGGAAGAT MANE Plus Clinical	NP_001263987.1:p.Glu381=
NM_001277059.2:c.1143_1155delinsAGAGGAGGAAGAT	NP_001263988.1:p.Glu381=
NM_001346440.2:c.1143_1155delinsAGAGGAGGAAGAT	NP_001333369.1:p.Glu381=