Canonical Allele Identifier: CA5496380

Gene: ERCC6

Linked Data

• dbSNP Id: rs773769291
• ExAC: 10:50732321 ATCTTCCTCCTCT / A
• gnomAD v2: 10-50732321-ATCTTCCTCCTCT-A
• MyVariant Identifiers: chr10:g.50732322_50732333del (hg19) ; chr10:g.49524276_49524287del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524278_49524289del , CM000672.2:g.49524278_49524289del	GRCh38
NC_000010.10:g.50732324_50732335del , CM000672.1:g.50732324_50732335del	GRCh37
NC_000010.9:g.50402330_50402341del	NCBI36
NG_009442.1:g.19815_19826del , LRG_465:g.19815_19826del
NG_033155.1:g.4995_5006del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1143_1154del MANE Select	ENSP00000348089.5:p.Glu381_Glu384del
ENST00000447839.7:c.1143_1154del MANE Plus Clinical	ENSP00000387966.2:p.Glu381_Glu384del
ENST00000679596.1:c.*772_*783del	ENSP00000504862.1:n.*772_*783del
ENST00000679811.1:n.1226_1237del
ENST00000680107.1:c.652+4130_652+4141del	ENSP00000505909.1:n.652+4130_652+4141del
ENST00000680233.1:n.1236_1247del
ENST00000681632.1:n.1221_1232del
ENST00000681659.1:c.1143_1154del	ENSP00000505631.1:p.Glu381_Glu384del
ENST00000355832.9:c.1143_1154del	ENSP00000348089.5:p.Glu381_Glu384del
ENST00000447839.6:c.1143_1154del	ENSP00000387966.2:p.Glu381_Glu384del
ENST00000515869.1:c.1143_1154del	ENSP00000423550.1:p.Glu381_Glu384del
NM_000124.3:c.1143_1154del	NP_000115.1:p.Glu381_Glu384del
NM_001277058.1:c.1143_1154del	NP_001263987.1:p.Glu381_Glu384del
NM_001277059.1:c.1143_1154del	NP_001263988.1:p.Glu381_Glu384del
NM_001346440.1:c.1143_1154del	NP_001333369.1:p.Glu381_Glu384del
NM_000124.4:c.1143_1154del MANE Select	NP_000115.1:p.Glu381_Glu384del
NM_001277058.2:c.1143_1154del MANE Plus Clinical	NP_001263987.1:p.Glu381_Glu384del
NM_001277059.2:c.1143_1154del	NP_001263988.1:p.Glu381_Glu384del
NM_001346440.2:c.1143_1154del	NP_001333369.1:p.Glu381_Glu384del