Canonical Allele Identifier: CA2787928365

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49460447del , CM000672.2:g.49460447del	GRCh38
NC_000010.10:g.50668493del , CM000672.1:g.50668493del	GRCh37
NC_000010.9:g.50338499del	NCBI36
NG_009442.1:g.83655del , LRG_465:g.83655del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3988del MANE Select	ENSP00000348089.5:p.Arg1330AspfsTer29
ENST00000679552.1:n.1059del
ENST00000679871.1:n.1134del
ENST00000679974.1:n.1037del
ENST00000681632.1:n.5391del
ENST00000681659.1:c.3829del	ENSP00000505631.1:p.Arg1277AspfsTer29
ENST00000355832.9:c.3988del	ENSP00000348089.5:p.Arg1330AspfsTer29
ENST00000465653.1:n.310del
ENST00000623073.3:c.*2284del	ENSP00000485650.1:n.*2284del
ENST00000623115.3:c.2098del	ENSP00000485321.1:p.Arg700AspfsTer29
ENST00000624341.3:c.1820del
NM_000124.3:c.3988del	NP_000115.1:p.Arg1330AspfsTer29
XR_945953.1:n.243-11118del
NM_001346440.1:c.3988del	NP_001333369.1:p.Arg1330AspfsTer29
NM_000124.4:c.3988del MANE Select	NP_000115.1:p.Arg1330AspfsTer29
NM_001346440.2:c.3988del	NP_001333369.1:p.Arg1330AspfsTer29