Canonical Allele Identifier: CA2574544986

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524365_49524366del , CM000672.2:g.49524365_49524366del	GRCh38
NC_000010.10:g.50732411_50732412del , CM000672.1:g.50732411_50732412del	GRCh37
NC_000010.9:g.50402417_50402418del	NCBI36
NG_009442.1:g.19737_19738del , LRG_465:g.19737_19738del
NG_033155.1:g.4917_4918del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1065_1066del MANE Select	ENSP00000348089.5:p.Trp355Ter
ENST00000447839.7:c.1065_1066del MANE Plus Clinical	ENSP00000387966.2:p.Trp355Ter
ENST00000679596.1:c.*694_*695del	ENSP00000504862.1:n.*694_*695del
ENST00000679811.1:n.1148_1149del
ENST00000680107.1:c.652+4052_652+4053del	ENSP00000505909.1:n.652+4052_652+4053del
ENST00000680233.1:n.1158_1159del
ENST00000681632.1:n.1143_1144del
ENST00000681659.1:c.1065_1066del	ENSP00000505631.1:p.Trp355Ter
ENST00000355832.9:c.1065_1066del	ENSP00000348089.5:p.Trp355Ter
ENST00000447839.6:c.1065_1066del	ENSP00000387966.2:p.Trp355Ter
ENST00000515869.1:c.1065_1066del	ENSP00000423550.1:p.Trp355Ter
NM_000124.3:c.1065_1066del	NP_000115.1:p.Trp355Ter
NM_001277058.1:c.1065_1066del	NP_001263987.1:p.Trp355Ter
NM_001277059.1:c.1065_1066del	NP_001263988.1:p.Trp355Ter
NM_001346440.1:c.1065_1066del	NP_001333369.1:p.Trp355Ter
NM_000124.4:c.1065_1066del MANE Select	NP_000115.1:p.Trp355Ter
NM_001277058.2:c.1065_1066del MANE Plus Clinical	NP_001263987.1:p.Trp355Ter
NM_001277059.2:c.1065_1066del	NP_001263988.1:p.Trp355Ter
NM_001346440.2:c.1065_1066del	NP_001333369.1:p.Trp355Ter