Canonical Allele Identifier: CA593780522

Gene: ERCC6

Linked Data

• dbSNP Id: rs765040780
• gnomAD v2: 10-50732552-C-CACTGGGGCTGGAGGCGTG
• gnomAD v4: 10-49524506-C-CACTGGGGCTGGAGGCGTG
• MyVariant Identifiers: chr10:g.50732552_50732553insACTGGGGCTGGAGGCGTG (hg19) ; chr10:g.49524506_49524507insACTGGGGCTGGAGGCGTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524520_49524537dup , CM000672.2:g.49524520_49524537dup	GRCh38
NC_000010.10:g.50732566_50732583dup , CM000672.1:g.50732566_50732583dup	GRCh37
NC_000010.9:g.50402572_50402589dup	NCBI36
NG_009442.1:g.19578_19595dup , LRG_465:g.19578_19595dup
NG_033155.1:g.4758_4775dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.906_923dup MANE Select	ENSP00000348089.5:p.Val308_Gln309insThrProProAlaProVal
ENST00000447839.7:c.906_923dup MANE Plus Clinical	ENSP00000387966.2:p.Val308_Gln309insThrProProAlaProVal
ENST00000679596.1:c.*535_*552dup	ENSP00000504862.1:n.*535_*552dup
ENST00000679811.1:n.989_1006dup
ENST00000680107.1:c.652+3893_652+3910dup	ENSP00000505909.1:n.652+3893_652+3910dup
ENST00000680233.1:n.999_1016dup
ENST00000681632.1:n.984_1001dup
ENST00000681659.1:c.906_923dup	ENSP00000505631.1:p.Val308_Gln309insThrProProAlaProVal
ENST00000355832.9:c.906_923dup	ENSP00000348089.5:p.Val308_Gln309insThrProProAlaProVal
ENST00000447839.6:c.906_923dup	ENSP00000387966.2:p.Val308_Gln309insThrProProAlaProVal
ENST00000515869.1:c.906_923dup	ENSP00000423550.1:p.Val308_Gln309insThrProProAlaProVal
NM_000124.3:c.906_923dup	NP_000115.1:p.Val308_Gln309insThrProProAlaProVal
NM_001277058.1:c.906_923dup	NP_001263987.1:p.Val308_Gln309insThrProProAlaProVal
NM_001277059.1:c.906_923dup	NP_001263988.1:p.Val308_Gln309insThrProProAlaProVal
NM_001346440.1:c.906_923dup	NP_001333369.1:p.Val308_Gln309insThrProProAlaProVal
NM_000124.4:c.906_923dup MANE Select	NP_000115.1:p.Val308_Gln309insThrProProAlaProVal
NM_001277058.2:c.906_923dup MANE Plus Clinical	NP_001263987.1:p.Val308_Gln309insThrProProAlaProVal
NM_001277059.2:c.906_923dup	NP_001263988.1:p.Val308_Gln309insThrProProAlaProVal
NM_001346440.2:c.906_923dup	NP_001333369.1:p.Val308_Gln309insThrProProAlaProVal