Canonical Allele Identifier: CA593780673
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1034077
ClinVar RCV Id: RCV002499665 RCV002546790
dbSNP Id: rs1439211546
gnomAD v2: 10-50690808-G-GC
gnomAD v3: 10-49482762-G-GC
gnomAD v4: 10-49482762-G-GC
MyVariant Identifiers: chr10:g.50690808_50690809insC (hg19) chr10:g.49482762_49482763insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49482764dup , CM000672.2:g.49482764dup GRCh38
NC_000010.10:g.50690810dup , CM000672.1:g.50690810dup GRCh37
NC_000010.9:g.50360816dup NCBI36
NG_009442.1:g.61339dup , LRG_465:g.61339dup

Transcript Alleles

HGVS Amino-acid change
ENST00000355832.10:c.2093dup MANE Select ENSP00000348089.5:p.Thr699HisfsTer?
ENST00000681632.1:n.2171dup
ENST00000681659.1:c.1934dup ENSP00000505631.1:p.Thr646HisfsTer?
ENST00000355832.9:c.2093dup ENSP00000348089.5:p.Thr699HisfsTer?
ENST00000623073.3:c.*485dup ENSP00000485650.1:n.*485dup
ENST00000623115.3:c.203dup ENSP00000485321.1:p.Thr69HisfsTer?
NM_000124.3:c.2093dup NP_000115.1:p.Thr699HisfsTer?
NM_001346440.1:c.2093dup NP_001333369.1:p.Thr699HisfsTer?
NM_000124.4:c.2093dup MANE Select NP_000115.1:p.Thr699HisfsTer?
NM_001346440.2:c.2093dup NP_001333369.1:p.Thr699HisfsTer?
Search 100 bp 5'
Search 100 bp 3'