Canonical Allele Identifier: CA1908749186

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49469948_49469958delinsGAGTGGCCATA , CM000672.2:g.49469948_49469958delinsGAGTGGCCATA	GRCh38
NC_000010.10:g.50677994_50678004delinsGAGTGGCCATA , CM000672.1:g.50677994_50678004delinsGAGTGGCCATA	GRCh37
NC_000010.9:g.50348000_50348010delinsGAGTGGCCATA	NCBI36
NG_009442.1:g.74144_74154delinsTATGGCCACTC , LRG_465:g.74144_74154delinsTATGGCCACTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3778+224_3778+234delinsTATGGCCACTC MANE Select	ENSP00000348089.5:n.3778+224_3778+234delinsTATGGCCACTC
ENST00000679552.1:n.849+224_849+234delinsTATGGCCACTC
ENST00000679871.1:n.924+224_924+234delinsTATGGCCACTC
ENST00000679974.1:n.827+224_827+234delinsTATGGCCACTC
ENST00000681632.1:n.5181+224_5181+234delinsTATGGCCACTC
ENST00000681659.1:c.3619+224_3619+234delinsTATGGCCACTC	ENSP00000505631.1:n.3619+224_3619+234delinsTATGGCCACTC
ENST00000355832.9:c.3778+224_3778+234delinsTATGGCCACTC	ENSP00000348089.5:n.3778+224_3778+234delinsTATGGCCACTC
ENST00000465653.1:n.100+224_100+234delinsTATGGCCACTC
ENST00000623073.3:c.*2074+224_*2074+234delinsTATGGCCACTC	ENSP00000485650.1:n.*2074+224_*2074+234delinsTATGGCCACTC
ENST00000623115.3:c.1888+224_1888+234delinsTATGGCCACTC	ENSP00000485321.1:n.1888+224_1888+234delinsTATGGCCACTC
ENST00000624341.3:c.1610+224_1610+234delinsTATGGCCACTC
NM_000124.3:c.3778+224_3778+234delinsTATGGCCACTC	NP_000115.1:n.3778+224_3778+234delinsTATGGCCACTC
XR_945953.1:n.243-1617_243-1607delinsGAGTGGCCATA
NM_001346440.1:c.3778+224_3778+234delinsTATGGCCACTC	NP_001333369.1:n.3778+224_3778+234delinsTATGGCCACTC
NM_000124.4:c.3778+224_3778+234delinsTATGGCCACTC MANE Select	NP_000115.1:n.3778+224_3778+234delinsTATGGCCACTC
NM_001346440.2:c.3778+224_3778+234delinsTATGGCCACTC	NP_001333369.1:n.3778+224_3778+234delinsTATGGCCACTC