Canonical Allele Identifier: CA2580081568

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1725887
• ClinVar RCV Id: RCV002306858

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471042_49471043delinsT , CM000672.2:g.49471042_49471043delinsT	GRCh38
NC_000010.10:g.50679088_50679089delinsT , CM000672.1:g.50679088_50679089delinsT	GRCh37
NC_000010.9:g.50349094_50349095delinsT	NCBI36
NG_009442.1:g.73059_73060delinsA , LRG_465:g.73059_73060delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3002_3003delinsA MANE Select	ENSP00000348089.5:p.Leu1001HisfsTer7
ENST00000679552.1:n.142-154_142-153delinsA
ENST00000679871.1:n.148_149delinsA
ENST00000679974.1:n.120-154_120-153delinsA
ENST00000681632.1:n.4405_4406delinsA
ENST00000681659.1:c.2843_2844delinsA	ENSP00000505631.1:p.Leu948HisfsTer7
ENST00000355832.9:c.3002_3003delinsA	ENSP00000348089.5:p.Leu1001HisfsTer7
ENST00000623073.3:c.*1298_*1299delinsA	ENSP00000485650.1:n.*1298_*1299delinsA
ENST00000623115.3:c.1112_1113delinsA	ENSP00000485321.1:p.Leu371HisfsTer7
ENST00000624341.3:c.834_835delinsA
NM_000124.3:c.3002_3003delinsA	NP_000115.1:p.Leu1001HisfsTer7
XR_945953.1:n.243-523_243-522delinsT
NM_001346440.1:c.3002_3003delinsA	NP_001333369.1:p.Leu1001HisfsTer7
NM_000124.4:c.3002_3003delinsA MANE Select	NP_000115.1:p.Leu1001HisfsTer7
NM_001346440.2:c.3002_3003delinsA	NP_001333369.1:p.Leu1001HisfsTer7