Canonical Allele Identifier: CA274707

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 190167
• ClinVar RCV Id: RCV000170386 ; RCV000224382 ; RCV000666242
• dbSNP Id: rs786205171
• gnomAD v3: 10-49470423-AT-A
• gnomAD v4: 10-49470423-AT-A
• MyVariant Identifiers: chr10:g.50678470del (hg19) ; chr10:g.49470424del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470424del , CM000672.2:g.49470424del	GRCh38
NC_000010.10:g.50678470del , CM000672.1:g.50678470del	GRCh37
NC_000010.9:g.50348476del	NCBI36
NG_009442.1:g.73678del , LRG_465:g.73678del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3536del MANE Select	ENSP00000348089.5:p.Tyr1179LeufsTer22
ENST00000679552.1:n.607del
ENST00000679871.1:n.682del
ENST00000679974.1:n.585del
ENST00000681632.1:n.4939del
ENST00000681659.1:c.3377del	ENSP00000505631.1:p.Tyr1126LeufsTer22
ENST00000355832.9:c.3536del	ENSP00000348089.5:p.Tyr1179LeufsTer22
ENST00000623073.3:c.*1832del	ENSP00000485650.1:n.*1832del
ENST00000623115.3:c.1646del	ENSP00000485321.1:p.Tyr549LeufsTer22
ENST00000624341.3:c.1368del
NM_000124.3:c.3536del	NP_000115.1:p.Tyr1179LeufsTer22
XR_945953.1:n.243-1141del
NM_001346440.1:c.3536del	NP_001333369.1:p.Tyr1179LeufsTer22
NM_000124.4:c.3536del MANE Select	NP_000115.1:p.Tyr1179LeufsTer22
NM_001346440.2:c.3536del	NP_001333369.1:p.Tyr1179LeufsTer22