Canonical Allele Identifier: CA2609133982

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49470462-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470464_49470465del , CM000672.2:g.49470464_49470465del	GRCh38
NC_000010.10:g.50678510_50678511del , CM000672.1:g.50678510_50678511del	GRCh37
NC_000010.9:g.50348516_50348517del	NCBI36
NG_009442.1:g.73638_73639del , LRG_465:g.73638_73639del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3496_3497del MANE Select	ENSP00000348089.5:p.Glu1166SerfsTer6
ENST00000679552.1:n.567_568del
ENST00000679871.1:n.642_643del
ENST00000679974.1:n.545_546del
ENST00000681632.1:n.4899_4900del
ENST00000681659.1:c.3337_3338del	ENSP00000505631.1:p.Glu1113SerfsTer6
ENST00000355832.9:c.3496_3497del	ENSP00000348089.5:p.Glu1166SerfsTer6
ENST00000623073.3:c.*1792_*1793del	ENSP00000485650.1:n.*1792_*1793del
ENST00000623115.3:c.1606_1607del	ENSP00000485321.1:p.Glu536SerfsTer6
ENST00000624341.3:c.1328_1329del
NM_000124.3:c.3496_3497del	NP_000115.1:p.Glu1166SerfsTer6
XR_945953.1:n.243-1101_243-1100del
NM_001346440.1:c.3496_3497del	NP_001333369.1:p.Glu1166SerfsTer6
NM_000124.4:c.3496_3497del MANE Select	NP_000115.1:p.Glu1166SerfsTer6
NM_001346440.2:c.3496_3497del	NP_001333369.1:p.Glu1166SerfsTer6