Canonical Allele Identifier: CA2609135438

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49460441-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49460444del , CM000672.2:g.49460444del	GRCh38
NC_000010.10:g.50668490del , CM000672.1:g.50668490del	GRCh37
NC_000010.9:g.50338496del	NCBI36
NG_009442.1:g.83660del , LRG_465:g.83660del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3993del MANE Select	ENSP00000348089.5:p.Phe1331LeufsTer28
ENST00000679552.1:n.1064del
ENST00000679871.1:n.1139del
ENST00000679974.1:n.1042del
ENST00000681632.1:n.5396del
ENST00000681659.1:c.3834del	ENSP00000505631.1:p.Phe1278LeufsTer28
ENST00000355832.9:c.3993del	ENSP00000348089.5:p.Phe1331LeufsTer28
ENST00000465653.1:n.315del
ENST00000623073.3:c.*2289del	ENSP00000485650.1:n.*2289del
ENST00000623115.3:c.2103del	ENSP00000485321.1:p.Phe701LeufsTer28
ENST00000624341.3:c.1825del
NM_000124.3:c.3993del	NP_000115.1:p.Phe1331LeufsTer28
XR_945953.1:n.243-11121del
NM_001346440.1:c.3993del	NP_001333369.1:p.Phe1331LeufsTer28
NM_000124.4:c.3993del MANE Select	NP_000115.1:p.Phe1331LeufsTer28
NM_001346440.2:c.3993del	NP_001333369.1:p.Phe1331LeufsTer28