Canonical Allele Identifier: CA593780445

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 558059
• ClinVar RCV Id: RCV000674275 ; RCV001386142
• dbSNP Id: rs1287286877
• gnomAD v2: 10-50678413-T-TTC
• gnomAD v4: 10-49470367-T-TTC
• MyVariant Identifiers: chr10:g.50678413_50678414insTC (hg19) ; chr10:g.49470368_49470369dup (hg38) ; chr10:g.49470367_49470368insTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470370_49470371dup , CM000672.2:g.49470370_49470371dup	GRCh38
NC_000010.10:g.50678416_50678417dup , CM000672.1:g.50678416_50678417dup	GRCh37
NC_000010.9:g.50348422_50348423dup	NCBI36
NG_009442.1:g.73733_73734dup , LRG_465:g.73733_73734dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3591_3592dup MANE Select	ENSP00000348089.5:p.Lys1198ArgfsTer4
ENST00000679552.1:n.662_663dup
ENST00000679871.1:n.737_738dup
ENST00000679974.1:n.640_641dup
ENST00000681632.1:n.4994_4995dup
ENST00000681659.1:c.3432_3433dup	ENSP00000505631.1:p.Lys1145ArgfsTer4
ENST00000355832.9:c.3591_3592dup	ENSP00000348089.5:p.Lys1198ArgfsTer4
ENST00000623073.3:c.*1887_*1888dup	ENSP00000485650.1:n.*1887_*1888dup
ENST00000623115.3:c.1701_1702dup	ENSP00000485321.1:p.Lys568ArgfsTer4
ENST00000624341.3:c.1423_1424dup
NM_000124.3:c.3591_3592dup	NP_000115.1:p.Lys1198ArgfsTer4
XR_945953.1:n.243-1195_243-1194dup
NM_001346440.1:c.3591_3592dup	NP_001333369.1:p.Lys1198ArgfsTer4
NM_000124.4:c.3591_3592dup MANE Select	NP_000115.1:p.Lys1198ArgfsTer4
NM_001346440.2:c.3591_3592dup	NP_001333369.1:p.Lys1198ArgfsTer4