Canonical Allele Identifier: CA2609139983

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49524573-TTCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524575_49524577del , CM000672.2:g.49524575_49524577del	GRCh38
NC_000010.10:g.50732621_50732623del , CM000672.1:g.50732621_50732623del	GRCh37
NC_000010.9:g.50402627_50402629del	NCBI36
NG_009442.1:g.19526_19528del , LRG_465:g.19526_19528del
NG_033155.1:g.4706_4708del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.854_856del MANE Select	ENSP00000348089.5:p.Arg285del
ENST00000447839.7:c.854_856del MANE Plus Clinical	ENSP00000387966.2:p.Arg285del
ENST00000679596.1:c.*483_*485del	ENSP00000504862.1:n.*483_*485del
ENST00000679811.1:n.937_939del
ENST00000680107.1:c.652+3841_652+3843del	ENSP00000505909.1:n.652+3841_652+3843del
ENST00000680233.1:n.947_949del
ENST00000681632.1:n.932_934del
ENST00000681659.1:c.854_856del	ENSP00000505631.1:p.Arg285del
ENST00000355832.9:c.854_856del	ENSP00000348089.5:p.Arg285del
ENST00000447839.6:c.854_856del	ENSP00000387966.2:p.Arg285del
ENST00000515869.1:c.854_856del	ENSP00000423550.1:p.Arg285del
NM_000124.3:c.854_856del	NP_000115.1:p.Arg285del
NM_001277058.1:c.854_856del	NP_001263987.1:p.Arg285del
NM_001277059.1:c.854_856del	NP_001263988.1:p.Arg285del
NM_001346440.1:c.854_856del	NP_001333369.1:p.Arg285del
NM_000124.4:c.854_856del MANE Select	NP_000115.1:p.Arg285del
NM_001277058.2:c.854_856del MANE Plus Clinical	NP_001263987.1:p.Arg285del
NM_001277059.2:c.854_856del	NP_001263988.1:p.Arg285del
NM_001346440.2:c.854_856del	NP_001333369.1:p.Arg285del