Canonical Allele Identifier: CA2580615460

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2001316
• ClinVar RCV Id: RCV002815319

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470335_49470336del , CM000672.2:g.49470335_49470336del	GRCh38
NC_000010.10:g.50678381_50678382del , CM000672.1:g.50678381_50678382del	GRCh37
NC_000010.9:g.50348387_50348388del	NCBI36
NG_009442.1:g.73768_73769del , LRG_465:g.73768_73769del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3626_3627del MANE Select	ENSP00000348089.5:p.Ser1209Ter
ENST00000679552.1:n.697_698del
ENST00000679871.1:n.772_773del
ENST00000679974.1:n.675_676del
ENST00000681632.1:n.5029_5030del
ENST00000681659.1:c.3467_3468del	ENSP00000505631.1:p.Ser1156Ter
ENST00000355832.9:c.3626_3627del	ENSP00000348089.5:p.Ser1209Ter
ENST00000623073.3:c.*1922_*1923del	ENSP00000485650.1:n.*1922_*1923del
ENST00000623115.3:c.1736_1737del	ENSP00000485321.1:p.Ser579Ter
ENST00000624341.3:c.1458_1459del
NM_000124.3:c.3626_3627del	NP_000115.1:p.Ser1209Ter
XR_945953.1:n.243-1230_243-1229del
NM_001346440.1:c.3626_3627del	NP_001333369.1:p.Ser1209Ter
NM_000124.4:c.3626_3627del MANE Select	NP_000115.1:p.Ser1209Ter
NM_001346440.2:c.3626_3627del	NP_001333369.1:p.Ser1209Ter