Canonical Allele Identifier: CA666041812

Gene: ERCC6

Linked Data

• dbSNP Id: rs1267274310
• MyVariant Identifiers: chr10:g.50701585_50701587del (hg19) ; chr10:g.49493539_49493541del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493543_49493545del , CM000672.2:g.49493543_49493545del	GRCh38
NC_000010.10:g.50701589_50701591del , CM000672.1:g.50701589_50701591del	GRCh37
NC_000010.9:g.50371595_50371597del	NCBI36
NG_009442.1:g.50561_50563del , LRG_465:g.50561_50563del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1686-289_1686-287del MANE Select	ENSP00000348089.5:n.1686-289_1686-287del
ENST00000681632.1:n.1764-289_1764-287del
ENST00000681659.1:c.1527-289_1527-287del	ENSP00000505631.1:n.1527-289_1527-287del
ENST00000355832.9:c.1686-289_1686-287del	ENSP00000348089.5:n.1686-289_1686-287del
ENST00000475116.1:n.275+6997_275+6999del
ENST00000623073.3:c.87-289_87-287del	ENSP00000485650.1:n.87-289_87-287del
ENST00000623115.3:c.-70+6997_-70+6999del	ENSP00000485321.1:n.-70+6997_-70+6999del
ENST00000623318.1:c.87-289_87-287del	ENSP00000485423.1:n.87-289_87-287del
NM_000124.3:c.1686-289_1686-287del	NP_000115.1:n.1686-289_1686-287del
NM_001346440.1:c.1686-289_1686-287del	NP_001333369.1:n.1686-289_1686-287del
NM_000124.4:c.1686-289_1686-287del MANE Select	NP_000115.1:n.1686-289_1686-287del
NM_001346440.2:c.1686-289_1686-287del	NP_001333369.1:n.1686-289_1686-287del