Canonical Allele Identifier: CA1908763583

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524295_49524297delinsCCT , CM000672.2:g.49524295_49524297delinsCCT	GRCh38
NC_000010.10:g.50732341_50732343delinsCCT , CM000672.1:g.50732341_50732343delinsCCT	GRCh37
NC_000010.9:g.50402347_50402349delinsCCT	NCBI36
NG_009442.1:g.19805_19807delinsAGG , LRG_465:g.19805_19807delinsAGG
NG_033155.1:g.4985_4987delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1133_1135delinsAGG MANE Select	ENSP00000348089.5:p.Glu378=
ENST00000447839.7:c.1133_1135delinsAGG MANE Plus Clinical	ENSP00000387966.2:p.Glu378=
ENST00000679596.1:c.*762_*764delinsAGG	ENSP00000504862.1:n.*762_*764delinsAGG
ENST00000679811.1:n.1216_1218delinsAGG
ENST00000680107.1:c.652+4120_652+4122delinsAGG	ENSP00000505909.1:n.652+4120_652+4122delinsAGG
ENST00000680233.1:n.1226_1228delinsAGG
ENST00000681632.1:n.1211_1213delinsAGG
ENST00000681659.1:c.1133_1135delinsAGG	ENSP00000505631.1:p.Glu378=
ENST00000355832.9:c.1133_1135delinsAGG	ENSP00000348089.5:p.Glu378=
ENST00000447839.6:c.1133_1135delinsAGG	ENSP00000387966.2:p.Glu378=
ENST00000515869.1:c.1133_1135delinsAGG	ENSP00000423550.1:p.Glu378=
NM_000124.3:c.1133_1135delinsAGG	NP_000115.1:p.Glu378=
NM_001277058.1:c.1133_1135delinsAGG	NP_001263987.1:p.Glu378=
NM_001277059.1:c.1133_1135delinsAGG	NP_001263988.1:p.Glu378=
NM_001346440.1:c.1133_1135delinsAGG	NP_001333369.1:p.Glu378=
NM_000124.4:c.1133_1135delinsAGG MANE Select	NP_000115.1:p.Glu378=
NM_001277058.2:c.1133_1135delinsAGG MANE Plus Clinical	NP_001263987.1:p.Glu378=
NM_001277059.2:c.1133_1135delinsAGG	NP_001263988.1:p.Glu378=
NM_001346440.2:c.1133_1135delinsAGG	NP_001333369.1:p.Glu378=