Canonical Allele Identifier: CA666035635
Gene: ERCC6 HGNC NCBI

Linked Data

dbSNP Id: rs1454230858
MyVariant Identifiers: chr10:g.50690790_50690791insA (hg19) chr10:g.49482744_49482745insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49482745dup , CM000672.2:g.49482745dup GRCh38
NC_000010.10:g.50690791dup , CM000672.1:g.50690791dup GRCh37
NC_000010.9:g.50360797dup NCBI36
NG_009442.1:g.61357dup , LRG_465:g.61357dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.2111dup MANE Select ENSP00000348089.5:p.Met704IlefsTer?
ENST00000681632.1:n.2189dup
ENST00000681659.1:c.1952dup ENSP00000505631.1:p.Met651IlefsTer?
ENST00000355832.9:c.2111dup ENSP00000348089.5:p.Met704IlefsTer?
ENST00000623073.3:c.*503dup ENSP00000485650.1:n.*503dup
ENST00000623115.3:c.221dup ENSP00000485321.1:p.Met74IlefsTer?
NM_000124.3:c.2111dup NP_000115.1:p.Met704IlefsTer?
NM_001346440.1:c.2111dup NP_001333369.1:p.Met704IlefsTer?
NM_000124.4:c.2111dup MANE Select NP_000115.1:p.Met704IlefsTer?
NM_001346440.2:c.2111dup NP_001333369.1:p.Met704IlefsTer?
Search 100 bp 5'
Search 100 bp 3'