Canonical Allele Identifier: CA1908773164

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493538_49493541delinsATAT , CM000672.2:g.49493538_49493541delinsATAT	GRCh38
NC_000010.10:g.50701584_50701587delinsATAT , CM000672.1:g.50701584_50701587delinsATAT	GRCh37
NC_000010.9:g.50371590_50371593delinsATAT	NCBI36
NG_009442.1:g.50561_50564delinsATAT , LRG_465:g.50561_50564delinsATAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1686-289_1686-286delinsATAT MANE Select	ENSP00000348089.5:n.1686-289_1686-286delinsATAT
ENST00000681632.1:n.1764-289_1764-286delinsATAT
ENST00000681659.1:c.1527-289_1527-286delinsATAT	ENSP00000505631.1:n.1527-289_1527-286delinsATAT
ENST00000355832.9:c.1686-289_1686-286delinsATAT	ENSP00000348089.5:n.1686-289_1686-286delinsATAT
ENST00000475116.1:n.275+6997_275+7000delinsATAT
ENST00000623073.3:c.87-289_87-286delinsATAT	ENSP00000485650.1:n.87-289_87-286delinsATAT
ENST00000623115.3:c.-70+6997_-70+7000delinsATAT	ENSP00000485321.1:n.-70+6997_-70+7000delinsATAT
ENST00000623318.1:c.87-289_87-286delinsATAT	ENSP00000485423.1:n.87-289_87-286delinsATAT
NM_000124.3:c.1686-289_1686-286delinsATAT	NP_000115.1:n.1686-289_1686-286delinsATAT
NM_001346440.1:c.1686-289_1686-286delinsATAT	NP_001333369.1:n.1686-289_1686-286delinsATAT
NM_000124.4:c.1686-289_1686-286delinsATAT MANE Select	NP_000115.1:n.1686-289_1686-286delinsATAT
NM_001346440.2:c.1686-289_1686-286delinsATAT	NP_001333369.1:n.1686-289_1686-286delinsATAT