Canonical Allele Identifier: CA2609133970

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49470451-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470454del , CM000672.2:g.49470454del	GRCh38
NC_000010.10:g.50678500del , CM000672.1:g.50678500del	GRCh37
NC_000010.9:g.50348506del	NCBI36
NG_009442.1:g.73650del , LRG_465:g.73650del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3508del MANE Select	ENSP00000348089.5:p.Glu1170ArgfsTer?
ENST00000679552.1:n.579del
ENST00000679871.1:n.654del
ENST00000679974.1:n.557del
ENST00000681632.1:n.4911del
ENST00000681659.1:c.3349del	ENSP00000505631.1:p.Glu1117ArgfsTer?
ENST00000355832.9:c.3508del	ENSP00000348089.5:p.Glu1170ArgfsTer?
ENST00000623073.3:c.*1804del	ENSP00000485650.1:n.*1804del
ENST00000623115.3:c.1618del	ENSP00000485321.1:p.Glu540ArgfsTer?
ENST00000624341.3:c.1340del
NM_000124.3:c.3508del	NP_000115.1:p.Glu1170ArgfsTer?
XR_945953.1:n.243-1111del
NM_001346440.1:c.3508del	NP_001333369.1:p.Glu1170ArgfsTer?
NM_000124.4:c.3508del MANE Select	NP_000115.1:p.Glu1170ArgfsTer?
NM_001346440.2:c.3508del	NP_001333369.1:p.Glu1170ArgfsTer?