Canonical Allele Identifier: CA1908764491

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524751_49524752delinsTG , CM000672.2:g.49524751_49524752delinsTG	GRCh38
NC_000010.10:g.50732797_50732798delinsTG , CM000672.1:g.50732797_50732798delinsTG	GRCh37
NC_000010.9:g.50402803_50402804delinsTG	NCBI36
NG_009442.1:g.19350_19351delinsCA , LRG_465:g.19350_19351delinsCA
NG_033155.1:g.4530_4531delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.678_679delinsCA MANE Select	ENSP00000348089.5:p.Ser226=
ENST00000447839.7:c.678_679delinsCA MANE Plus Clinical	ENSP00000387966.2:p.Ser226=
ENST00000679596.1:c.*307_*308delinsCA	ENSP00000504862.1:n.*307_*308delinsCA
ENST00000679811.1:n.761_762delinsCA
ENST00000680107.1:c.652+3665_652+3666delinsCA	ENSP00000505909.1:n.652+3665_652+3666delinsCA
ENST00000680233.1:n.771_772delinsCA
ENST00000681632.1:n.756_757delinsCA
ENST00000681659.1:c.678_679delinsCA	ENSP00000505631.1:p.Ser226=
ENST00000355832.9:c.678_679delinsCA	ENSP00000348089.5:p.Ser226=
ENST00000447839.6:c.678_679delinsCA	ENSP00000387966.2:p.Ser226=
ENST00000515869.1:c.678_679delinsCA	ENSP00000423550.1:p.Ser226=
NM_000124.3:c.678_679delinsCA	NP_000115.1:p.Ser226=
NM_001277058.1:c.678_679delinsCA	NP_001263987.1:p.Ser226=
NM_001277059.1:c.678_679delinsCA	NP_001263988.1:p.Ser226=
NM_001346440.1:c.678_679delinsCA	NP_001333369.1:p.Ser226=
NM_000124.4:c.678_679delinsCA MANE Select	NP_000115.1:p.Ser226=
NM_001277058.2:c.678_679delinsCA MANE Plus Clinical	NP_001263987.1:p.Ser226=
NM_001277059.2:c.678_679delinsCA	NP_001263988.1:p.Ser226=
NM_001346440.2:c.678_679delinsCA	NP_001333369.1:p.Ser226=