Canonical Allele Identifier: CA5495462

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 429988
• ClinVar RCV Id: RCV000494454
• dbSNP Id: rs747651923
• ExAC: 10:50679137 CTATT / C
• gnomAD v2: 10-50679137-CTATT-C
• gnomAD v4: 10-49471091-CTATT-C
• MyVariant Identifiers: chr10:g.50679138_50679141del (hg19) ; chr10:g.49471092_49471095del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471093_49471096del , CM000672.2:g.49471093_49471096del	GRCh38
NC_000010.10:g.50679139_50679142del , CM000672.1:g.50679139_50679142del	GRCh37
NC_000010.9:g.50349145_50349148del	NCBI36
NG_009442.1:g.73007_73010del , LRG_465:g.73007_73010del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2950_2953del MANE Select	ENSP00000348089.5:p.Asn984GlufsTer3
ENST00000679552.1:n.142-206_142-203del
ENST00000679871.1:n.96_99del
ENST00000679974.1:n.120-206_120-203del
ENST00000681632.1:n.4353_4356del
ENST00000681659.1:c.2791_2794del	ENSP00000505631.1:p.Asn931GlufsTer3
ENST00000355832.9:c.2950_2953del	ENSP00000348089.5:p.Asn984GlufsTer3
ENST00000623073.3:c.*1246_*1249del	ENSP00000485650.1:n.*1246_*1249del
ENST00000623115.3:c.1060_1063del	ENSP00000485321.1:p.Asn354GlufsTer3
ENST00000624341.3:c.782_785del
NM_000124.3:c.2950_2953del	NP_000115.1:p.Asn984GlufsTer3
XR_945953.1:n.243-472_243-469del
NM_001346440.1:c.2950_2953del	NP_001333369.1:p.Asn984GlufsTer3
NM_000124.4:c.2950_2953del MANE Select	NP_000115.1:p.Asn984GlufsTer3
NM_001346440.2:c.2950_2953del	NP_001333369.1:p.Asn984GlufsTer3