Canonical Allele Identifier: CA912969881

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678424_50678427del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470378_49470381del , CM000672.2:g.49470378_49470381del	GRCh38
NC_000010.10:g.50678424_50678427del , CM000672.1:g.50678424_50678427del	GRCh37
NC_000010.9:g.50348430_50348433del	NCBI36
NG_009442.1:g.73722_73725del , LRG_465:g.73722_73725del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3580_3583del MANE Select	ENSP00000348089.5:p.Glu1194ProfsTer6
ENST00000679552.1:n.651_654del
ENST00000679871.1:n.726_729del
ENST00000679974.1:n.629_632del
ENST00000681632.1:n.4983_4986del
ENST00000681659.1:c.3421_3424del	ENSP00000505631.1:p.Glu1141ProfsTer6
ENST00000355832.9:c.3580_3583del	ENSP00000348089.5:p.Glu1194ProfsTer6
ENST00000623073.3:c.*1876_*1879del	ENSP00000485650.1:n.*1876_*1879del
ENST00000623115.3:c.1690_1693del	ENSP00000485321.1:p.Glu564ProfsTer6
ENST00000624341.3:c.1412_1415del
NM_000124.3:c.3580_3583del	NP_000115.1:p.Glu1194ProfsTer6
XR_945953.1:n.243-1187_243-1184del
NM_001346440.1:c.3580_3583del	NP_001333369.1:p.Glu1194ProfsTer6
NM_000124.4:c.3580_3583del MANE Select	NP_000115.1:p.Glu1194ProfsTer6
NM_001346440.2:c.3580_3583del	NP_001333369.1:p.Glu1194ProfsTer6