Canonical Allele Identifier: CA2787931204

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524294_49524295insA , CM000672.2:g.49524294_49524295insA	GRCh38
NC_000010.10:g.50732340_50732341insA , CM000672.1:g.50732340_50732341insA	GRCh37
NC_000010.9:g.50402346_50402347insA	NCBI36
NG_009442.1:g.19807_19808insT , LRG_465:g.19807_19808insT
NG_033155.1:g.4987_4988insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1135_1136insT MANE Select	ENSP00000348089.5:p.Glu379ValfsTer8
ENST00000447839.7:c.1135_1136insT MANE Plus Clinical	ENSP00000387966.2:p.Glu379ValfsTer8
ENST00000679596.1:c.*764_*765insT	ENSP00000504862.1:n.*764_*765insT
ENST00000679811.1:n.1218_1219insT
ENST00000680107.1:c.652+4122_652+4123insT	ENSP00000505909.1:n.652+4122_652+4123insT
ENST00000680233.1:n.1228_1229insT
ENST00000681632.1:n.1213_1214insT
ENST00000681659.1:c.1135_1136insT	ENSP00000505631.1:p.Glu379ValfsTer8
ENST00000355832.9:c.1135_1136insT	ENSP00000348089.5:p.Glu379ValfsTer8
ENST00000447839.6:c.1135_1136insT	ENSP00000387966.2:p.Glu379ValfsTer8
ENST00000515869.1:c.1135_1136insT	ENSP00000423550.1:p.Glu379ValfsTer8
NM_000124.3:c.1135_1136insT	NP_000115.1:p.Glu379ValfsTer8
NM_001277058.1:c.1135_1136insT	NP_001263987.1:p.Glu379ValfsTer8
NM_001277059.1:c.1135_1136insT	NP_001263988.1:p.Glu379ValfsTer8
NM_001346440.1:c.1135_1136insT	NP_001333369.1:p.Glu379ValfsTer8
NM_000124.4:c.1135_1136insT MANE Select	NP_000115.1:p.Glu379ValfsTer8
NM_001277058.2:c.1135_1136insT MANE Plus Clinical	NP_001263987.1:p.Glu379ValfsTer8
NM_001277059.2:c.1135_1136insT	NP_001263988.1:p.Glu379ValfsTer8
NM_001346440.2:c.1135_1136insT	NP_001333369.1:p.Glu379ValfsTer8