Canonical Allele Identifier: CA2540086241

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524741_49524742insAACTCTG , CM000672.2:g.49524741_49524742insAACTCTG	GRCh38
NC_000010.10:g.50732787_50732788insAACTCTG , CM000672.1:g.50732787_50732788insAACTCTG	GRCh37
NC_000010.9:g.50402793_50402794insAACTCTG	NCBI36
NG_009442.1:g.19361_19362insAGAGTTC , LRG_465:g.19361_19362insAGAGTTC
NG_033155.1:g.4541_4542insAGAGTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.689_690insAGAGTTC MANE Select	ENSP00000348089.5:p.Val231GlufsTer?
ENST00000447839.7:c.689_690insAGAGTTC MANE Plus Clinical	ENSP00000387966.2:p.Val231GlufsTer?
ENST00000679596.1:c.*318_*319insAGAGTTC	ENSP00000504862.1:n.*318_*319insAGAGTTC
ENST00000679811.1:n.772_773insAGAGTTC
ENST00000680107.1:c.652+3676_652+3677insAGAGTTC	ENSP00000505909.1:n.652+3676_652+3677insAGAGTTC
ENST00000680233.1:n.782_783insAGAGTTC
ENST00000681632.1:n.767_768insAGAGTTC
ENST00000681659.1:c.689_690insAGAGTTC	ENSP00000505631.1:p.Val231GlufsTer?
ENST00000355832.9:c.689_690insAGAGTTC	ENSP00000348089.5:p.Val231GlufsTer?
ENST00000447839.6:c.689_690insAGAGTTC	ENSP00000387966.2:p.Val231GlufsTer?
ENST00000515869.1:c.689_690insAGAGTTC	ENSP00000423550.1:p.Val231GlufsTer?
NM_000124.3:c.689_690insAGAGTTC	NP_000115.1:p.Val231GlufsTer?
NM_001277058.1:c.689_690insAGAGTTC	NP_001263987.1:p.Val231GlufsTer?
NM_001277059.1:c.689_690insAGAGTTC	NP_001263988.1:p.Val231GlufsTer?
NM_001346440.1:c.689_690insAGAGTTC	NP_001333369.1:p.Val231GlufsTer?
NM_000124.4:c.689_690insAGAGTTC MANE Select	NP_000115.1:p.Val231GlufsTer?
NM_001277058.2:c.689_690insAGAGTTC MANE Plus Clinical	NP_001263987.1:p.Val231GlufsTer?
NM_001277059.2:c.689_690insAGAGTTC	NP_001263988.1:p.Val231GlufsTer?
NM_001346440.2:c.689_690insAGAGTTC	NP_001333369.1:p.Val231GlufsTer?