Canonical Allele Identifier: CA2499220247

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1072519
• ClinVar RCV Id: RCV001385253
• dbSNP Id: rs2132537076

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470437_49470438delinsAA , CM000672.2:g.49470437_49470438delinsAA	GRCh38
NC_000010.10:g.50678483_50678484delinsAA , CM000672.1:g.50678483_50678484delinsAA	GRCh37
NC_000010.9:g.50348489_50348490delinsAA	NCBI36
NG_009442.1:g.73664_73665delinsTT , LRG_465:g.73664_73665delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3522_3523delinsTT MANE Select	ENSP00000348089.5:p.Met1174IlefsTer2
ENST00000679552.1:n.593_594delinsTT
ENST00000679871.1:n.668_669delinsTT
ENST00000679974.1:n.571_572delinsTT
ENST00000681632.1:n.4925_4926delinsTT
ENST00000681659.1:c.3363_3364delinsTT	ENSP00000505631.1:p.Met1121IlefsTer2
ENST00000355832.9:c.3522_3523delinsTT	ENSP00000348089.5:p.Met1174IlefsTer2
ENST00000623073.3:c.*1818_*1819delinsTT	ENSP00000485650.1:n.*1818_*1819delinsTT
ENST00000623115.3:c.1632_1633delinsTT	ENSP00000485321.1:p.Met544IlefsTer2
ENST00000624341.3:c.1354_1355delinsTT
NM_000124.3:c.3522_3523delinsTT	NP_000115.1:p.Met1174IlefsTer2
XR_945953.1:n.243-1128_243-1127delinsAA
NM_001346440.1:c.3522_3523delinsTT	NP_001333369.1:p.Met1174IlefsTer2
NM_000124.4:c.3522_3523delinsTT MANE Select	NP_000115.1:p.Met1174IlefsTer2
NM_001346440.2:c.3522_3523delinsTT	NP_001333369.1:p.Met1174IlefsTer2