Canonical Allele Identifier: CA2695211996

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470995dup , CM000672.2:g.49470995dup	GRCh38
NC_000010.10:g.50679041dup , CM000672.1:g.50679041dup	GRCh37
NC_000010.9:g.50349047dup	NCBI36
NG_009442.1:g.73109dup , LRG_465:g.73109dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3052dup MANE Select	ENSP00000348089.5:p.Thr1018AsnfsTer?
ENST00000679552.1:n.142-104dup
ENST00000679871.1:n.198dup
ENST00000679974.1:n.120-104dup
ENST00000681632.1:n.4455dup
ENST00000681659.1:c.2893dup	ENSP00000505631.1:p.Thr965AsnfsTer?
ENST00000355832.9:c.3052dup	ENSP00000348089.5:p.Thr1018AsnfsTer?
ENST00000623073.3:c.*1348dup	ENSP00000485650.1:n.*1348dup
ENST00000623115.3:c.1162dup	ENSP00000485321.1:p.Thr388AsnfsTer?
ENST00000624341.3:c.884dup
NM_000124.3:c.3052dup	NP_000115.1:p.Thr1018AsnfsTer?
XR_945953.1:n.243-570dup
NM_001346440.1:c.3052dup	NP_001333369.1:p.Thr1018AsnfsTer?
NM_000124.4:c.3052dup MANE Select	NP_000115.1:p.Thr1018AsnfsTer?
NM_001346440.2:c.3052dup	NP_001333369.1:p.Thr1018AsnfsTer?