Canonical Allele Identifier: CA2697558337

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2746639
• ClinVar RCV Id: RCV003563158

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524331_49524332del , CM000672.2:g.49524331_49524332del	GRCh38
NC_000010.10:g.50732377_50732378del , CM000672.1:g.50732377_50732378del	GRCh37
NC_000010.9:g.50402383_50402384del	NCBI36
NG_009442.1:g.19772_19773del , LRG_465:g.19772_19773del
NG_033155.1:g.4952_4953del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1100_1101del MANE Select	ENSP00000348089.5:p.Ser367Ter
ENST00000447839.7:c.1100_1101del MANE Plus Clinical	ENSP00000387966.2:p.Ser367Ter
ENST00000679596.1:c.*729_*730del	ENSP00000504862.1:n.*729_*730del
ENST00000679811.1:n.1183_1184del
ENST00000680107.1:c.652+4087_652+4088del	ENSP00000505909.1:n.652+4087_652+4088del
ENST00000680233.1:n.1193_1194del
ENST00000681632.1:n.1178_1179del
ENST00000681659.1:c.1100_1101del	ENSP00000505631.1:p.Ser367Ter
ENST00000355832.9:c.1100_1101del	ENSP00000348089.5:p.Ser367Ter
ENST00000447839.6:c.1100_1101del	ENSP00000387966.2:p.Ser367Ter
ENST00000515869.1:c.1100_1101del	ENSP00000423550.1:p.Ser367Ter
NM_000124.3:c.1100_1101del	NP_000115.1:p.Ser367Ter
NM_001277058.1:c.1100_1101del	NP_001263987.1:p.Ser367Ter
NM_001277059.1:c.1100_1101del	NP_001263988.1:p.Ser367Ter
NM_001346440.1:c.1100_1101del	NP_001333369.1:p.Ser367Ter
NM_000124.4:c.1100_1101del MANE Select	NP_000115.1:p.Ser367Ter
NM_001277058.2:c.1100_1101del MANE Plus Clinical	NP_001263987.1:p.Ser367Ter
NM_001277059.2:c.1100_1101del	NP_001263988.1:p.Ser367Ter
NM_001346440.2:c.1100_1101del	NP_001333369.1:p.Ser367Ter