Canonical Allele Identifier: CA915945902

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 705820
• ClinVar RCV Id: RCV000876238 ; RCV001261852
• dbSNP Id: rs1590405627

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470478_49470479delinsGG , CM000672.2:g.49470478_49470479delinsGG	GRCh38
NC_000010.10:g.50678524_50678525delinsGG , CM000672.1:g.50678524_50678525delinsGG	GRCh37
NC_000010.9:g.50348530_50348531delinsGG	NCBI36
NG_009442.1:g.73623_73624delinsCC , LRG_465:g.73623_73624delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3481_3482delinsCC MANE Select	ENSP00000348089.5:p.Ser1161Pro
ENST00000679552.1:n.552_553delinsCC
ENST00000679871.1:n.627_628delinsCC
ENST00000679974.1:n.530_531delinsCC
ENST00000681632.1:n.4884_4885delinsCC
ENST00000681659.1:c.3322_3323delinsCC	ENSP00000505631.1:p.Ser1108Pro
ENST00000355832.9:c.3481_3482delinsCC	ENSP00000348089.5:p.Ser1161Pro
ENST00000623073.3:c.*1777_*1778delinsCC	ENSP00000485650.1:n.*1777_*1778delinsCC
ENST00000623115.3:c.1591_1592delinsCC	ENSP00000485321.1:p.Ser531Pro
ENST00000624341.3:c.1313_1314delinsCC
NM_000124.3:c.3481_3482delinsCC	NP_000115.1:p.Ser1161Pro
XR_945953.1:n.243-1087_243-1086delinsGG
NM_001346440.1:c.3481_3482delinsCC	NP_001333369.1:p.Ser1161Pro
NM_000124.4:c.3481_3482delinsCC MANE Select	NP_000115.1:p.Ser1161Pro
NM_001346440.2:c.3481_3482delinsCC	NP_001333369.1:p.Ser1161Pro