Canonical Allele Identifier: CA593780451

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 556537
• ClinVar RCV Id: RCV000672557 ; RCV002532129
• dbSNP Id: rs1342267719
• gnomAD v2: 10-50678889-CCTT-C
• gnomAD v4: 10-49470843-CCTT-C
• MyVariant Identifiers: chr10:g.50678890_50678892del (hg19) ; chr10:g.49470844_49470846del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470847_49470849del , CM000672.2:g.49470847_49470849del	GRCh38
NC_000010.10:g.50678893_50678895del , CM000672.1:g.50678893_50678895del	GRCh37
NC_000010.9:g.50348899_50348901del	NCBI36
NG_009442.1:g.73256_73258del , LRG_465:g.73256_73258del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3114_3116del MANE Select	ENSP00000348089.5:p.Arg1039del
ENST00000679552.1:n.185_187del
ENST00000679871.1:n.260_262del
ENST00000679974.1:n.163_165del
ENST00000681632.1:n.4517_4519del
ENST00000681659.1:c.2955_2957del	ENSP00000505631.1:p.Arg986del
ENST00000355832.9:c.3114_3116del	ENSP00000348089.5:p.Arg1039del
ENST00000623073.3:c.*1410_*1412del	ENSP00000485650.1:n.*1410_*1412del
ENST00000623115.3:c.1224_1226del	ENSP00000485321.1:p.Arg409del
ENST00000624341.3:c.946_948del
NM_000124.3:c.3114_3116del	NP_000115.1:p.Arg1039del
XR_945953.1:n.243-718_243-716del
NM_001346440.1:c.3114_3116del	NP_001333369.1:p.Arg1039del
NM_000124.4:c.3114_3116del MANE Select	NP_000115.1:p.Arg1039del
NM_001346440.2:c.3114_3116del	NP_001333369.1:p.Arg1039del