Canonical Allele Identifier: CA2787928783

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471163_49471164insA , CM000672.2:g.49471163_49471164insA	GRCh38
NC_000010.10:g.50679209_50679210insA , CM000672.1:g.50679209_50679210insA	GRCh37
NC_000010.9:g.50349215_50349216insA	NCBI36
NG_009442.1:g.72938_72939insT , LRG_465:g.72938_72939insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2925-44_2925-43insT MANE Select	ENSP00000348089.5:n.2925-44_2925-43insT
ENST00000679552.1:n.142-275_142-274insT
ENST00000679871.1:n.71-44_71-43insT
ENST00000679974.1:n.120-275_120-274insT
ENST00000681632.1:n.4328-44_4328-43insT
ENST00000681659.1:c.2766-44_2766-43insT	ENSP00000505631.1:n.2766-44_2766-43insT
ENST00000355832.9:c.2925-44_2925-43insT	ENSP00000348089.5:n.2925-44_2925-43insT
ENST00000623073.3:c.*1221-44_*1221-43insT	ENSP00000485650.1:n.*1221-44_*1221-43insT
ENST00000623115.3:c.1035-44_1035-43insT	ENSP00000485321.1:n.1035-44_1035-43insT
ENST00000624341.3:c.757-44_757-43insT
NM_000124.3:c.2925-44_2925-43insT	NP_000115.1:n.2925-44_2925-43insT
XR_945953.1:n.243-402_243-401insA
NM_001346440.1:c.2925-44_2925-43insT	NP_001333369.1:n.2925-44_2925-43insT
NM_000124.4:c.2925-44_2925-43insT MANE Select	NP_000115.1:n.2925-44_2925-43insT
NM_001346440.2:c.2925-44_2925-43insT	NP_001333369.1:n.2925-44_2925-43insT