Canonical Allele Identifier: CA5496389

Gene: ERCC6

Linked Data

• dbSNP Id: rs776852962
• ExAC: 10:50732355 TACTC / T
• gnomAD v2: 10-50732355-TACTC-T
• gnomAD v4: 10-49524309-TACTC-T
• MyVariant Identifiers: chr10:g.50732356_50732359del (hg19) ; chr10:g.49524310_49524313del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524311_49524314del , CM000672.2:g.49524311_49524314del	GRCh38
NC_000010.10:g.50732357_50732360del , CM000672.1:g.50732357_50732360del	GRCh37
NC_000010.9:g.50402363_50402366del	NCBI36
NG_009442.1:g.19789_19792del , LRG_465:g.19789_19792del
NG_033155.1:g.4969_4972del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1117_1120del MANE Select	ENSP00000348089.5:p.Glu373IlefsTer?
ENST00000447839.7:c.1117_1120del MANE Plus Clinical	ENSP00000387966.2:p.Glu373IlefsTer?
ENST00000679596.1:c.*746_*749del	ENSP00000504862.1:n.*746_*749del
ENST00000679811.1:n.1200_1203del
ENST00000680107.1:c.652+4104_652+4107del	ENSP00000505909.1:n.652+4104_652+4107del
ENST00000680233.1:n.1210_1213del
ENST00000681632.1:n.1195_1198del
ENST00000681659.1:c.1117_1120del	ENSP00000505631.1:p.Glu373IlefsTer?
ENST00000355832.9:c.1117_1120del	ENSP00000348089.5:p.Glu373IlefsTer?
ENST00000447839.6:c.1117_1120del	ENSP00000387966.2:p.Glu373IlefsTer?
ENST00000515869.1:c.1117_1120del	ENSP00000423550.1:p.Glu373IlefsTer?
NM_000124.3:c.1117_1120del	NP_000115.1:p.Glu373IlefsTer?
NM_001277058.1:c.1117_1120del	NP_001263987.1:p.Glu373IlefsTer?
NM_001277059.1:c.1117_1120del	NP_001263988.1:p.Glu373IlefsTer?
NM_001346440.1:c.1117_1120del	NP_001333369.1:p.Glu373IlefsTer?
NM_000124.4:c.1117_1120del MANE Select	NP_000115.1:p.Glu373IlefsTer?
NM_001277058.2:c.1117_1120del MANE Plus Clinical	NP_001263987.1:p.Glu373IlefsTer?
NM_001277059.2:c.1117_1120del	NP_001263988.1:p.Glu373IlefsTer?
NM_001346440.2:c.1117_1120del	NP_001333369.1:p.Glu373IlefsTer?