Canonical Allele Identifier: CA2573145155

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1609007
• ClinVar RCV Id: RCV002149982

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470323_49470324delinsCA , CM000672.2:g.49470323_49470324delinsCA	GRCh38
NC_000010.10:g.50678369_50678370delinsCA , CM000672.1:g.50678369_50678370delinsCA	GRCh37
NC_000010.9:g.50348375_50348376delinsCA	NCBI36
NG_009442.1:g.73778_73779delinsTG , LRG_465:g.73778_73779delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3636_3637delinsTG MANE Select	ENSP00000348089.5:p.Arg1213Gly
ENST00000679552.1:n.707_708delinsTG
ENST00000679871.1:n.782_783delinsTG
ENST00000679974.1:n.685_686delinsTG
ENST00000681632.1:n.5039_5040delinsTG
ENST00000681659.1:c.3477_3478delinsTG	ENSP00000505631.1:p.Arg1160Gly
ENST00000355832.9:c.3636_3637delinsTG	ENSP00000348089.5:p.Arg1213Gly
ENST00000623073.3:c.*1932_*1933delinsTG	ENSP00000485650.1:n.*1932_*1933delinsTG
ENST00000623115.3:c.1746_1747delinsTG	ENSP00000485321.1:p.Arg583Gly
ENST00000624341.3:c.1468_1469delinsTG
NM_000124.3:c.3636_3637delinsTG	NP_000115.1:p.Arg1213Gly
XR_945953.1:n.243-1242_243-1241delinsCA
NM_001346440.1:c.3636_3637delinsTG	NP_001333369.1:p.Arg1213Gly
NM_000124.4:c.3636_3637delinsTG MANE Select	NP_000115.1:p.Arg1213Gly
NM_001346440.2:c.3636_3637delinsTG	NP_001333369.1:p.Arg1213Gly