Canonical Allele Identifier: CA2787928749

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470779_49470787del , CM000672.2:g.49470779_49470787del	GRCh38
NC_000010.10:g.50678825_50678833del , CM000672.1:g.50678825_50678833del	GRCh37
NC_000010.9:g.50348831_50348839del	NCBI36
NG_009442.1:g.73315_73323del , LRG_465:g.73315_73323del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3173_3181del MANE Select	ENSP00000348089.5:p.Ala1058_Ile1061delinsVal
ENST00000679552.1:n.244_252del
ENST00000679871.1:n.319_327del
ENST00000679974.1:n.222_230del
ENST00000681632.1:n.4576_4584del
ENST00000681659.1:c.3014_3022del	ENSP00000505631.1:p.Ala1005_Ile1008delinsVal
ENST00000355832.9:c.3173_3181del	ENSP00000348089.5:p.Ala1058_Ile1061delinsVal
ENST00000623073.3:c.*1469_*1477del	ENSP00000485650.1:n.*1469_*1477del
ENST00000623115.3:c.1283_1291del	ENSP00000485321.1:p.Ala428_Ile431delinsVal
ENST00000624341.3:c.1005_1013del
NM_000124.3:c.3173_3181del	NP_000115.1:p.Ala1058_Ile1061delinsVal
XR_945953.1:n.243-786_243-778del
NM_001346440.1:c.3173_3181del	NP_001333369.1:p.Ala1058_Ile1061delinsVal
NM_000124.4:c.3173_3181del MANE Select	NP_000115.1:p.Ala1058_Ile1061delinsVal
NM_001346440.2:c.3173_3181del	NP_001333369.1:p.Ala1058_Ile1061delinsVal