Canonical Allele Identifier: CA666049436

Gene: ERCC6

Linked Data

• dbSNP Id: rs1306127692
• MyVariant Identifiers: chr10:g.50732418_50732420del (hg19) ; chr10:g.49524372_49524374del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524374_49524376del , CM000672.2:g.49524374_49524376del	GRCh38
NC_000010.10:g.50732420_50732422del , CM000672.1:g.50732420_50732422del	GRCh37
NC_000010.9:g.50402426_50402428del	NCBI36
NG_009442.1:g.19728_19730del , LRG_465:g.19728_19730del
NG_033155.1:g.4908_4910del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1056_1058del MANE Select	ENSP00000348089.5:p.Arg353del
ENST00000447839.7:c.1056_1058del MANE Plus Clinical	ENSP00000387966.2:p.Arg353del
ENST00000679596.1:c.*685_*687del	ENSP00000504862.1:n.*685_*687del
ENST00000679811.1:n.1139_1141del
ENST00000680107.1:c.652+4043_652+4045del	ENSP00000505909.1:n.652+4043_652+4045del
ENST00000680233.1:n.1149_1151del
ENST00000681632.1:n.1134_1136del
ENST00000681659.1:c.1056_1058del	ENSP00000505631.1:p.Arg353del
ENST00000355832.9:c.1056_1058del	ENSP00000348089.5:p.Arg353del
ENST00000447839.6:c.1056_1058del	ENSP00000387966.2:p.Arg353del
ENST00000515869.1:c.1056_1058del	ENSP00000423550.1:p.Arg353del
NM_000124.3:c.1056_1058del	NP_000115.1:p.Arg353del
NM_001277058.1:c.1056_1058del	NP_001263987.1:p.Arg353del
NM_001277059.1:c.1056_1058del	NP_001263988.1:p.Arg353del
NM_001346440.1:c.1056_1058del	NP_001333369.1:p.Arg353del
NM_000124.4:c.1056_1058del MANE Select	NP_000115.1:p.Arg353del
NM_001277058.2:c.1056_1058del MANE Plus Clinical	NP_001263987.1:p.Arg353del
NM_001277059.2:c.1056_1058del	NP_001263988.1:p.Arg353del
NM_001346440.2:c.1056_1058del	NP_001333369.1:p.Arg353del