Canonical Allele Identifier: CA1908763738

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524371_49524374delinsTCTC , CM000672.2:g.49524371_49524374delinsTCTC	GRCh38
NC_000010.10:g.50732417_50732420delinsTCTC , CM000672.1:g.50732417_50732420delinsTCTC	GRCh37
NC_000010.9:g.50402423_50402426delinsTCTC	NCBI36
NG_009442.1:g.19728_19731delinsGAGA , LRG_465:g.19728_19731delinsGAGA
NG_033155.1:g.4908_4911delinsGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1056_1059delinsGAGA MANE Select	ENSP00000348089.5:p.Arg352=
ENST00000447839.7:c.1056_1059delinsGAGA MANE Plus Clinical	ENSP00000387966.2:p.Arg352=
ENST00000679596.1:c.*685_*688delinsGAGA	ENSP00000504862.1:n.*685_*688delinsGAGA
ENST00000679811.1:n.1139_1142delinsGAGA
ENST00000680107.1:c.652+4043_652+4046delinsGAGA	ENSP00000505909.1:n.652+4043_652+4046delinsGAGA
ENST00000680233.1:n.1149_1152delinsGAGA
ENST00000681632.1:n.1134_1137delinsGAGA
ENST00000681659.1:c.1056_1059delinsGAGA	ENSP00000505631.1:p.Arg352=
ENST00000355832.9:c.1056_1059delinsGAGA	ENSP00000348089.5:p.Arg352=
ENST00000447839.6:c.1056_1059delinsGAGA	ENSP00000387966.2:p.Arg352=
ENST00000515869.1:c.1056_1059delinsGAGA	ENSP00000423550.1:p.Arg352=
NM_000124.3:c.1056_1059delinsGAGA	NP_000115.1:p.Arg352=
NM_001277058.1:c.1056_1059delinsGAGA	NP_001263987.1:p.Arg352=
NM_001277059.1:c.1056_1059delinsGAGA	NP_001263988.1:p.Arg352=
NM_001346440.1:c.1056_1059delinsGAGA	NP_001333369.1:p.Arg352=
NM_000124.4:c.1056_1059delinsGAGA MANE Select	NP_000115.1:p.Arg352=
NM_001277058.2:c.1056_1059delinsGAGA MANE Plus Clinical	NP_001263987.1:p.Arg352=
NM_001277059.2:c.1056_1059delinsGAGA	NP_001263988.1:p.Arg352=
NM_001346440.2:c.1056_1059delinsGAGA	NP_001333369.1:p.Arg352=