Canonical Allele Identifier: CA2609139744

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49524313-C-CAA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524314_49524315insAA , CM000672.2:g.49524314_49524315insAA	GRCh38
NC_000010.10:g.50732360_50732361insAA , CM000672.1:g.50732360_50732361insAA	GRCh37
NC_000010.9:g.50402366_50402367insAA	NCBI36
NG_009442.1:g.19788_19789insTT , LRG_465:g.19788_19789insTT
NG_033155.1:g.4968_4969insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1116_1117insTT MANE Select	ENSP00000348089.5:p.Glu373LeufsTer?
ENST00000447839.7:c.1116_1117insTT MANE Plus Clinical	ENSP00000387966.2:p.Glu373LeufsTer?
ENST00000679596.1:c.*745_*746insTT	ENSP00000504862.1:n.*745_*746insTT
ENST00000679811.1:n.1199_1200insTT
ENST00000680107.1:c.652+4103_652+4104insTT	ENSP00000505909.1:n.652+4103_652+4104insTT
ENST00000680233.1:n.1209_1210insTT
ENST00000681632.1:n.1194_1195insTT
ENST00000681659.1:c.1116_1117insTT	ENSP00000505631.1:p.Glu373LeufsTer?
ENST00000355832.9:c.1116_1117insTT	ENSP00000348089.5:p.Glu373LeufsTer?
ENST00000447839.6:c.1116_1117insTT	ENSP00000387966.2:p.Glu373LeufsTer?
ENST00000515869.1:c.1116_1117insTT	ENSP00000423550.1:p.Glu373LeufsTer?
NM_000124.3:c.1116_1117insTT	NP_000115.1:p.Glu373LeufsTer?
NM_001277058.1:c.1116_1117insTT	NP_001263987.1:p.Glu373LeufsTer?
NM_001277059.1:c.1116_1117insTT	NP_001263988.1:p.Glu373LeufsTer?
NM_001346440.1:c.1116_1117insTT	NP_001333369.1:p.Glu373LeufsTer?
NM_000124.4:c.1116_1117insTT MANE Select	NP_000115.1:p.Glu373LeufsTer?
NM_001277058.2:c.1116_1117insTT MANE Plus Clinical	NP_001263987.1:p.Glu373LeufsTer?
NM_001277059.2:c.1116_1117insTT	NP_001263988.1:p.Glu373LeufsTer?
NM_001346440.2:c.1116_1117insTT	NP_001333369.1:p.Glu373LeufsTer?