Canonical Allele Identifier: CA1908745439

Gene: ERCC6

Linked Data

• dbSNP Id: rs1850578261

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461347_49461348del , CM000672.2:g.49461347_49461348del	GRCh38
NC_000010.10:g.50669393_50669394del , CM000672.1:g.50669393_50669394del	GRCh37
NC_000010.9:g.50339399_50339400del	NCBI36
NG_009442.1:g.82757_82758del , LRG_465:g.82757_82758del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3983+7_3983+8del MANE Select	ENSP00000348089.5:n.3983+7_3983+8del
ENST00000679552.1:n.1054+7_1054+8del
ENST00000679871.1:n.1129+7_1129+8del
ENST00000679974.1:n.1032+7_1032+8del
ENST00000681632.1:n.5386+7_5386+8del
ENST00000681659.1:c.3824+7_3824+8del	ENSP00000505631.1:n.3824+7_3824+8del
ENST00000355832.9:c.3983+7_3983+8del	ENSP00000348089.5:n.3983+7_3983+8del
ENST00000465653.1:n.305+7_305+8del
ENST00000623073.3:c.*2279+7_*2279+8del	ENSP00000485650.1:n.*2279+7_*2279+8del
ENST00000623115.3:c.2093+7_2093+8del	ENSP00000485321.1:n.2093+7_2093+8del
ENST00000624341.3:c.1815+7_1815+8del
NM_000124.3:c.3983+7_3983+8del	NP_000115.1:n.3983+7_3983+8del
XR_945953.1:n.243-10218_243-10217del
NM_001346440.1:c.3983+7_3983+8del	NP_001333369.1:n.3983+7_3983+8del
NM_000124.4:c.3983+7_3983+8del MANE Select	NP_000115.1:n.3983+7_3983+8del
NM_001346440.2:c.3983+7_3983+8del	NP_001333369.1:n.3983+7_3983+8del