Canonical Allele Identifier: CA2787930298

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493350_49493358del , CM000672.2:g.49493350_49493358del	GRCh38
NC_000010.10:g.50701396_50701404del , CM000672.1:g.50701396_50701404del	GRCh37
NC_000010.9:g.50371402_50371410del	NCBI36
NG_009442.1:g.50744_50752del , LRG_465:g.50744_50752del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1686-106_1686-98del MANE Select	ENSP00000348089.5:n.1686-106_1686-98del
ENST00000681632.1:n.1764-106_1764-98del
ENST00000681659.1:c.1527-106_1527-98del	ENSP00000505631.1:n.1527-106_1527-98del
ENST00000355832.9:c.1686-106_1686-98del	ENSP00000348089.5:n.1686-106_1686-98del
ENST00000475116.1:n.275+7180_275+7188del
ENST00000623073.3:c.87-106_87-98del	ENSP00000485650.1:n.87-106_87-98del
ENST00000623115.3:c.-70+7180_-70+7188del	ENSP00000485321.1:n.-70+7180_-70+7188del
ENST00000623318.1:c.87-106_87-98del	ENSP00000485423.1:n.87-106_87-98del
NM_000124.3:c.1686-106_1686-98del	NP_000115.1:n.1686-106_1686-98del
NM_001346440.1:c.1686-106_1686-98del	NP_001333369.1:n.1686-106_1686-98del
NM_000124.4:c.1686-106_1686-98del MANE Select	NP_000115.1:n.1686-106_1686-98del
NM_001346440.2:c.1686-106_1686-98del	NP_001333369.1:n.1686-106_1686-98del