Canonical Allele Identifier: CA2573145157

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1453999
• ClinVar RCV Id: RCV001941652
• dbSNP Id: rs2132537171
• gnomAD v4: 10-49470495-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470496dup , CM000672.2:g.49470496dup	GRCh38
NC_000010.10:g.50678542dup , CM000672.1:g.50678542dup	GRCh37
NC_000010.9:g.50348548dup	NCBI36
NG_009442.1:g.73606dup , LRG_465:g.73606dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3464dup MANE Select	ENSP00000348089.5:p.Tyr1155Ter
ENST00000679552.1:n.535dup
ENST00000679871.1:n.610dup
ENST00000679974.1:n.513dup
ENST00000681632.1:n.4867dup
ENST00000681659.1:c.3305dup	ENSP00000505631.1:p.Tyr1102Ter
ENST00000355832.9:c.3464dup	ENSP00000348089.5:p.Tyr1155Ter
ENST00000623073.3:c.*1760dup	ENSP00000485650.1:n.*1760dup
ENST00000623115.3:c.1574dup	ENSP00000485321.1:p.Tyr525Ter
ENST00000624341.3:c.1296dup
NM_000124.3:c.3464dup	NP_000115.1:p.Tyr1155Ter
XR_945953.1:n.243-1069dup
NM_001346440.1:c.3464dup	NP_001333369.1:p.Tyr1155Ter
NM_000124.4:c.3464dup MANE Select	NP_000115.1:p.Tyr1155Ter
NM_001346440.2:c.3464dup	NP_001333369.1:p.Tyr1155Ter