Canonical Allele Identifier: CA2609134266

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49470763-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470764del , CM000672.2:g.49470764del	GRCh38
NC_000010.10:g.50678810del , CM000672.1:g.50678810del	GRCh37
NC_000010.9:g.50348816del	NCBI36
NG_009442.1:g.73338del , LRG_465:g.73338del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3196del MANE Select	ENSP00000348089.5:p.Ala1066ProfsTer15
ENST00000679552.1:n.267del
ENST00000679871.1:n.342del
ENST00000679974.1:n.245del
ENST00000681632.1:n.4599del
ENST00000681659.1:c.3037del	ENSP00000505631.1:p.Ala1013ProfsTer15
ENST00000355832.9:c.3196del	ENSP00000348089.5:p.Ala1066ProfsTer15
ENST00000623073.3:c.*1492del	ENSP00000485650.1:n.*1492del
ENST00000623115.3:c.1306del	ENSP00000485321.1:p.Ala436ProfsTer15
ENST00000624341.3:c.1028del
NM_000124.3:c.3196del	NP_000115.1:p.Ala1066ProfsTer15
XR_945953.1:n.243-801del
NM_001346440.1:c.3196del	NP_001333369.1:p.Ala1066ProfsTer15
NM_000124.4:c.3196del MANE Select	NP_000115.1:p.Ala1066ProfsTer15
NM_001346440.2:c.3196del	NP_001333369.1:p.Ala1066ProfsTer15