Canonical Allele Identifier: CA1908763359

Gene: ERCC6 PGBD3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524196_49524197delinsTC , CM000672.2:g.49524196_49524197delinsTC	GRCh38
NC_000010.10:g.50732242_50732243delinsTC , CM000672.1:g.50732242_50732243delinsTC	GRCh37
NC_000010.9:g.50402248_50402249delinsTC	NCBI36
NG_009442.1:g.19905_19906delinsGA , LRG_465:g.19905_19906delinsGA
NG_033155.1:g.5085_5086delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1233_1234delinsGA (ERCC6) MANE Select	ENSP00000348089.5:p.Gly411=
ENST00000447839.7:c.1233_1234delinsGA (ERCC6) MANE Plus Clinical	ENSP00000387966.2:p.Gly411=
ENST00000679596.1:c.*862_*863delinsGA (ERCC6)	ENSP00000504862.1:n.*862_*863delinsGA
ENST00000679811.1:n.1316_1317delinsGA (ERCC6)
ENST00000680107.1:c.652+4220_652+4221delinsGA (ERCC6)	ENSP00000505909.1:n.652+4220_652+4221delinsGA
ENST00000680233.1:n.1326_1327delinsGA (ERCC6)
ENST00000681632.1:n.1311_1312delinsGA (ERCC6)
ENST00000681659.1:c.1233_1234delinsGA (ERCC6)	ENSP00000505631.1:p.Gly411=
ENST00000355832.9:c.1233_1234delinsGA (ERCC6)	ENSP00000348089.5:p.Gly411=
ENST00000374127.3:c.-172_-171delinsGA	ENSP00000363242.3:n.-172_-171delinsGA
ENST00000447839.6:c.1233_1234delinsGA	ENSP00000387966.2:p.Gly411=
ENST00000515869.1:c.1233_1234delinsGA	ENSP00000423550.1:p.Gly411=
NM_000124.3:c.1233_1234delinsGA (ERCC6)	NP_000115.1:p.Gly411=
NM_001277058.1:c.1233_1234delinsGA	NP_001263987.1:p.Gly411=
NM_001277059.1:c.1233_1234delinsGA	NP_001263988.1:p.Gly411=
NM_170753.3:c.-172_-171delinsGA (PGBD3)	NP_736609.2:n.-172_-171delinsGA
NM_001346440.1:c.1233_1234delinsGA (ERCC6)	NP_001333369.1:p.Gly411=
NM_000124.4:c.1233_1234delinsGA (ERCC6) MANE Select	NP_000115.1:p.Gly411=
NM_001277058.2:c.1233_1234delinsGA (ERCC6) MANE Plus Clinical	NP_001263987.1:p.Gly411=
NM_001277059.2:c.1233_1234delinsGA (ERCC6)	NP_001263988.1:p.Gly411=
NM_001346440.2:c.1233_1234delinsGA (ERCC6)	NP_001333369.1:p.Gly411=