Canonical Allele Identifier: CA1908749562

Gene: ERCC6

Linked Data

• dbSNP Id: rs1850763282
• gnomAD v4: 10-49470775-GAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470778_49470779del , CM000672.2:g.49470778_49470779del	GRCh38
NC_000010.10:g.50678824_50678825del , CM000672.1:g.50678824_50678825del	GRCh37
NC_000010.9:g.50348830_50348831del	NCBI36
NG_009442.1:g.73325_73326del , LRG_465:g.73325_73326del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3183_3184del MANE Select	ENSP00000348089.5:p.Ser1062CysfsTer3
ENST00000679552.1:n.254_255del
ENST00000679871.1:n.329_330del
ENST00000679974.1:n.232_233del
ENST00000681632.1:n.4586_4587del
ENST00000681659.1:c.3024_3025del	ENSP00000505631.1:p.Ser1009CysfsTer3
ENST00000355832.9:c.3183_3184del	ENSP00000348089.5:p.Ser1062CysfsTer3
ENST00000623073.3:c.*1479_*1480del	ENSP00000485650.1:n.*1479_*1480del
ENST00000623115.3:c.1293_1294del	ENSP00000485321.1:p.Ser432CysfsTer3
ENST00000624341.3:c.1015_1016del
NM_000124.3:c.3183_3184del	NP_000115.1:p.Ser1062CysfsTer3
XR_945953.1:n.243-787_243-786del
NM_001346440.1:c.3183_3184del	NP_001333369.1:p.Ser1062CysfsTer3
NM_000124.4:c.3183_3184del MANE Select	NP_000115.1:p.Ser1062CysfsTer3
NM_001346440.2:c.3183_3184del	NP_001333369.1:p.Ser1062CysfsTer3