Canonical Allele Identifier: CA658822989

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 554825
• ClinVar RCV Id: RCV000670522 ; RCV001382561
• dbSNP Id: rs1554875154
• MyVariant Identifiers: chr10:g.49470333dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470333dup , CM000672.2:g.49470333dup	GRCh38
NC_000010.10:g.50678379dup , CM000672.1:g.50678379dup	GRCh37
NC_000010.9:g.50348385dup	NCBI36
NG_009442.1:g.73769dup , LRG_465:g.73769dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3627dup MANE Select	ENSP00000348089.5:p.Lys1210Ter
ENST00000679552.1:n.698dup
ENST00000679871.1:n.773dup
ENST00000679974.1:n.676dup
ENST00000681632.1:n.5030dup
ENST00000681659.1:c.3468dup	ENSP00000505631.1:p.Lys1157Ter
ENST00000355832.9:c.3627dup	ENSP00000348089.5:p.Lys1210Ter
ENST00000623073.3:c.*1923dup	ENSP00000485650.1:n.*1923dup
ENST00000623115.3:c.1737dup	ENSP00000485321.1:p.Lys580Ter
ENST00000624341.3:c.1459dup
NM_000124.3:c.3627dup	NP_000115.1:p.Lys1210Ter
XR_945953.1:n.243-1232dup
NM_001346440.1:c.3627dup	NP_001333369.1:p.Lys1210Ter
NM_000124.4:c.3627dup MANE Select	NP_000115.1:p.Lys1210Ter
NM_001346440.2:c.3627dup	NP_001333369.1:p.Lys1210Ter