Canonical Allele Identifier: CA2609134382

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49471088-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471091_49471092del , CM000672.2:g.49471091_49471092del	GRCh38
NC_000010.10:g.50679137_50679138del , CM000672.1:g.50679137_50679138del	GRCh37
NC_000010.9:g.50349143_50349144del	NCBI36
NG_009442.1:g.73012_73013del , LRG_465:g.73012_73013del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2955_2956del MANE Select	ENSP00000348089.5:p.Arg985SerfsTer15
ENST00000679552.1:n.142-201_142-200del
ENST00000679871.1:n.101_102del
ENST00000679974.1:n.120-201_120-200del
ENST00000681632.1:n.4358_4359del
ENST00000681659.1:c.2796_2797del	ENSP00000505631.1:p.Arg932SerfsTer15
ENST00000355832.9:c.2955_2956del	ENSP00000348089.5:p.Arg985SerfsTer15
ENST00000623073.3:c.*1251_*1252del	ENSP00000485650.1:n.*1251_*1252del
ENST00000623115.3:c.1065_1066del	ENSP00000485321.1:p.Arg355SerfsTer15
ENST00000624341.3:c.787_788del
NM_000124.3:c.2955_2956del	NP_000115.1:p.Arg985SerfsTer15
XR_945953.1:n.243-474_243-473del
NM_001346440.1:c.2955_2956del	NP_001333369.1:p.Arg985SerfsTer15
NM_000124.4:c.2955_2956del MANE Select	NP_000115.1:p.Arg985SerfsTer15
NM_001346440.2:c.2955_2956del	NP_001333369.1:p.Arg985SerfsTer15