Canonical Allele Identifier: CA1908749197

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49469993_49469994delinsAG , CM000672.2:g.49469993_49469994delinsAG	GRCh38
NC_000010.10:g.50678039_50678040delinsAG , CM000672.1:g.50678039_50678040delinsAG	GRCh37
NC_000010.9:g.50348045_50348046delinsAG	NCBI36
NG_009442.1:g.74108_74109delinsCT , LRG_465:g.74108_74109delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3778+188_3778+189delinsCT MANE Select	ENSP00000348089.5:n.3778+188_3778+189delinsCT
ENST00000679552.1:n.849+188_849+189delinsCT
ENST00000679871.1:n.924+188_924+189delinsCT
ENST00000679974.1:n.827+188_827+189delinsCT
ENST00000681632.1:n.5181+188_5181+189delinsCT
ENST00000681659.1:c.3619+188_3619+189delinsCT	ENSP00000505631.1:n.3619+188_3619+189delinsCT
ENST00000355832.9:c.3778+188_3778+189delinsCT	ENSP00000348089.5:n.3778+188_3778+189delinsCT
ENST00000465653.1:n.100+188_100+189delinsCT
ENST00000623073.3:c.*2074+188_*2074+189delinsCT	ENSP00000485650.1:n.*2074+188_*2074+189delinsCT
ENST00000623115.3:c.1888+188_1888+189delinsCT	ENSP00000485321.1:n.1888+188_1888+189delinsCT
ENST00000624341.3:c.1610+188_1610+189delinsCT
NM_000124.3:c.3778+188_3778+189delinsCT	NP_000115.1:n.3778+188_3778+189delinsCT
XR_945953.1:n.243-1572_243-1571delinsAG
NM_001346440.1:c.3778+188_3778+189delinsCT	NP_001333369.1:n.3778+188_3778+189delinsCT
NM_000124.4:c.3778+188_3778+189delinsCT MANE Select	NP_000115.1:n.3778+188_3778+189delinsCT
NM_001346440.2:c.3778+188_3778+189delinsCT	NP_001333369.1:n.3778+188_3778+189delinsCT