Canonical Allele Identifier: CA2609139740

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49524312-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524313_49524314del , CM000672.2:g.49524313_49524314del	GRCh38
NC_000010.10:g.50732359_50732360del , CM000672.1:g.50732359_50732360del	GRCh37
NC_000010.9:g.50402365_50402366del	NCBI36
NG_009442.1:g.19788_19789del , LRG_465:g.19788_19789del
NG_033155.1:g.4968_4969del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1116_1117del MANE Select	ENSP00000348089.5:p.Glu373ValfsTer13
ENST00000447839.7:c.1116_1117del MANE Plus Clinical	ENSP00000387966.2:p.Glu373ValfsTer13
ENST00000679596.1:c.*745_*746del	ENSP00000504862.1:n.*745_*746del
ENST00000679811.1:n.1199_1200del
ENST00000680107.1:c.652+4103_652+4104del	ENSP00000505909.1:n.652+4103_652+4104del
ENST00000680233.1:n.1209_1210del
ENST00000681632.1:n.1194_1195del
ENST00000681659.1:c.1116_1117del	ENSP00000505631.1:p.Glu373ValfsTer13
ENST00000355832.9:c.1116_1117del	ENSP00000348089.5:p.Glu373ValfsTer13
ENST00000447839.6:c.1116_1117del	ENSP00000387966.2:p.Glu373ValfsTer13
ENST00000515869.1:c.1116_1117del	ENSP00000423550.1:p.Glu373ValfsTer13
NM_000124.3:c.1116_1117del	NP_000115.1:p.Glu373ValfsTer13
NM_001277058.1:c.1116_1117del	NP_001263987.1:p.Glu373ValfsTer13
NM_001277059.1:c.1116_1117del	NP_001263988.1:p.Glu373ValfsTer13
NM_001346440.1:c.1116_1117del	NP_001333369.1:p.Glu373ValfsTer13
NM_000124.4:c.1116_1117del MANE Select	NP_000115.1:p.Glu373ValfsTer13
NM_001277058.2:c.1116_1117del MANE Plus Clinical	NP_001263987.1:p.Glu373ValfsTer13
NM_001277059.2:c.1116_1117del	NP_001263988.1:p.Glu373ValfsTer13
NM_001346440.2:c.1116_1117del	NP_001333369.1:p.Glu373ValfsTer13