Canonical Allele Identifier: CA2697558380

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2696317
• ClinVar RCV Id: RCV003542928

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470501_49470504del , CM000672.2:g.49470501_49470504del	GRCh38
NC_000010.10:g.50678547_50678550del , CM000672.1:g.50678547_50678550del	GRCh37
NC_000010.9:g.50348553_50348556del	NCBI36
NG_009442.1:g.73602_73605del , LRG_465:g.73602_73605del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3460_3463del MANE Select	ENSP00000348089.5:p.Ser1154ThrfsTer?
ENST00000679552.1:n.531_534del
ENST00000679871.1:n.606_609del
ENST00000679974.1:n.509_512del
ENST00000681632.1:n.4863_4866del
ENST00000681659.1:c.3301_3304del	ENSP00000505631.1:p.Ser1101ThrfsTer?
ENST00000355832.9:c.3460_3463del	ENSP00000348089.5:p.Ser1154ThrfsTer?
ENST00000623073.3:c.*1756_*1759del	ENSP00000485650.1:n.*1756_*1759del
ENST00000623115.3:c.1570_1573del	ENSP00000485321.1:p.Ser524ThrfsTer?
ENST00000624341.3:c.1292_1295del
NM_000124.3:c.3460_3463del	NP_000115.1:p.Ser1154ThrfsTer?
XR_945953.1:n.243-1064_243-1061del
NM_001346440.1:c.3460_3463del	NP_001333369.1:p.Ser1154ThrfsTer?
NM_000124.4:c.3460_3463del MANE Select	NP_000115.1:p.Ser1154ThrfsTer?
NM_001346440.2:c.3460_3463del	NP_001333369.1:p.Ser1154ThrfsTer?