Canonical Allele Identifier: CA593780446

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 553649
• ClinVar RCV Id: RCV000669145
• dbSNP Id: rs1248870490
• gnomAD v2: 10-50678424-CTCT-C
• gnomAD v3: 10-49470378-CTCT-C
• gnomAD v4: 10-49470378-CTCT-C
• MyVariant Identifiers: chr10:g.50678425_50678427del (hg19) ; chr10:g.49470379_49470381del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470385_49470387del , CM000672.2:g.49470385_49470387del	GRCh38
NC_000010.10:g.50678431_50678433del , CM000672.1:g.50678431_50678433del	GRCh37
NC_000010.9:g.50348437_50348439del	NCBI36
NG_009442.1:g.73721_73723del , LRG_465:g.73721_73723del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3579_3581del MANE Select	ENSP00000348089.5:p.Glu1194del
ENST00000679552.1:n.650_652del
ENST00000679871.1:n.725_727del
ENST00000679974.1:n.628_630del
ENST00000681632.1:n.4982_4984del
ENST00000681659.1:c.3420_3422del	ENSP00000505631.1:p.Glu1141del
ENST00000355832.9:c.3579_3581del	ENSP00000348089.5:p.Glu1194del
ENST00000623073.3:c.*1875_*1877del	ENSP00000485650.1:n.*1875_*1877del
ENST00000623115.3:c.1689_1691del	ENSP00000485321.1:p.Glu564del
ENST00000624341.3:c.1411_1413del
NM_000124.3:c.3579_3581del	NP_000115.1:p.Glu1194del
XR_945953.1:n.243-1180_243-1178del
NM_001346440.1:c.3579_3581del	NP_001333369.1:p.Glu1194del
NM_000124.4:c.3579_3581del MANE Select	NP_000115.1:p.Glu1194del
NM_001346440.2:c.3579_3581del	NP_001333369.1:p.Glu1194del