Canonical Allele Identifier: CA274706
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 190166
ClinVar RCV Id: RCV000170385 RCV000668548
dbSNP Id: rs786205170
gnomAD v4: 10-49470547-G-GT
MyVariant Identifiers: chr10:g.50678594dupT (hg19) chr10:g.50678593_50678594insT (hg19) chr10:g.49470548dupT (hg38) chr10:g.49470547_49470548insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49470551dup , CM000672.2:g.49470551dup GRCh38
NC_000010.10:g.50678597dup , CM000672.1:g.50678597dup GRCh37
NC_000010.9:g.50348603dup NCBI36
NG_009442.1:g.73554dup , LRG_465:g.73554dup

Transcript Alleles

HGVS Amino-acid change
ENST00000355832.10:c.3412dup MANE Select ENSP00000348089.5:p.Thr1138AsnfsTer7
ENST00000679552.1:n.483dup
ENST00000679871.1:n.558dup
ENST00000679974.1:n.461dup
ENST00000681632.1:n.4815dup
ENST00000681659.1:c.3253dup ENSP00000505631.1:p.Thr1085AsnfsTer7
ENST00000355832.9:c.3412dup ENSP00000348089.5:p.Thr1138AsnfsTer7
ENST00000623073.3:c.*1708dup ENSP00000485650.1:n.*1708dup
ENST00000623115.3:c.1522dup ENSP00000485321.1:p.Thr508AsnfsTer7
ENST00000624341.3:c.1244dup
NM_000124.3:c.3412dup NP_000115.1:p.Thr1138AsnfsTer7
XR_945953.1:n.243-1014dup
NM_001346440.1:c.3412dup NP_001333369.1:p.Thr1138AsnfsTer7
NM_000124.4:c.3412dup MANE Select NP_000115.1:p.Thr1138AsnfsTer7
NM_001346440.2:c.3412dup NP_001333369.1:p.Thr1138AsnfsTer7
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