Canonical Allele Identifier: CA5495504

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 781789
• ClinVar RCV Id: RCV000963071
• dbSNP Id: rs759974249
• ExAC: 10:50680523 CAG / C
• gnomAD v2: 10-50680523-CAG-C
• gnomAD v3: 10-49472477-CAG-C
• gnomAD v4: 10-49472477-CAG-C
• MyVariant Identifiers: chr10:g.50680526_50680527del (hg19) ; chr10:g.50680524_50680525del (hg19) ; chr10:g.49472478_49472479del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472489_49472490del , CM000672.2:g.49472489_49472490del	GRCh38
NC_000010.10:g.50680535_50680536del , CM000672.1:g.50680535_50680536del	GRCh37
NC_000010.9:g.50350541_50350542del	NCBI36
NG_009442.1:g.71623_71624del , LRG_465:g.71623_71624del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2830-9_2830-8del MANE Select	ENSP00000348089.5:n.2830-9_2830-8del
ENST00000681632.1:n.4224_4225del
ENST00000681659.1:c.2671-9_2671-8del	ENSP00000505631.1:n.2671-9_2671-8del
ENST00000355832.9:c.2830-9_2830-8del	ENSP00000348089.5:n.2830-9_2830-8del
ENST00000623073.3:c.*1126-9_*1126-8del	ENSP00000485650.1:n.*1126-9_*1126-8del
ENST00000623115.3:c.940-9_940-8del	ENSP00000485321.1:n.940-9_940-8del
ENST00000624341.3:c.662-9_662-8del
NM_000124.3:c.2830-9_2830-8del	NP_000115.1:n.2830-9_2830-8del
XR_945953.1:n.690-214_690-213del
NM_001346440.1:c.2830-9_2830-8del	NP_001333369.1:n.2830-9_2830-8del
NM_000124.4:c.2830-9_2830-8del MANE Select	NP_000115.1:n.2830-9_2830-8del
NM_001346440.2:c.2830-9_2830-8del	NP_001333369.1:n.2830-9_2830-8del