Canonical Allele Identifier: CA274693
Gene: ERCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49493233_49500539del , CM000672.2:g.49493233_49500539del GRCh38
NC_000010.10:g.50701279_50708585del , CM000672.1:g.50701279_50708585del GRCh37
NC_000010.9:g.50371285_50378591del NCBI36
NG_009442.1:g.43563_50869del , LRG_465:g.43563_50869del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.1684_1705del
ENST00000681632.1:n.1762_1783del
ENST00000681659.1:c.1526+5345_1546del
ENST00000355832.9:c.1684_1705del
ENST00000475116.1:n.274_275+7305del
ENST00000623073.3:c.85_106del
ENST00000623115.3:c.-71_-70+7305del
ENST00000623318.1:c.85_106del
NM_000124.3:c.1684_1705del
NM_001346440.1:c.1684_1705del
NM_000124.4:c.1684_1705del
NM_001346440.2:c.1684_1705del