Canonical Allele Identifier: CA2574544903

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493246del , CM000672.2:g.49493246del	GRCh38
NC_000010.10:g.50701292del , CM000672.1:g.50701292del	GRCh37
NC_000010.9:g.50371298del	NCBI36
NG_009442.1:g.50859del , LRG_465:g.50859del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1695del MANE Select	ENSP00000348089.5:p.Leu566TrpfsTer5
ENST00000681632.1:n.1773del
ENST00000681659.1:c.1536del	ENSP00000505631.1:p.Leu513TrpfsTer5
ENST00000355832.9:c.1695del	ENSP00000348089.5:p.Leu566TrpfsTer5
ENST00000475116.1:n.275+7295del
ENST00000623073.3:c.96del	ENSP00000485650.1:p.Leu33TrpfsTer5
ENST00000623115.3:c.-70+7295del	ENSP00000485321.1:n.-70+7295del
ENST00000623318.1:c.96del	ENSP00000485423.1:p.Leu33TrpfsTer5
NM_000124.3:c.1695del	NP_000115.1:p.Leu566TrpfsTer5
NM_001346440.1:c.1695del	NP_001333369.1:p.Leu566TrpfsTer5
NM_000124.4:c.1695del MANE Select	NP_000115.1:p.Leu566TrpfsTer5
NM_001346440.2:c.1695del	NP_001333369.1:p.Leu566TrpfsTer5