Canonical Allele Identifier: CA1908745349

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461132_49461135delinsTCTC , CM000672.2:g.49461132_49461135delinsTCTC	GRCh38
NC_000010.10:g.50669178_50669181delinsTCTC , CM000672.1:g.50669178_50669181delinsTCTC	GRCh37
NC_000010.9:g.50339184_50339187delinsTCTC	NCBI36
NG_009442.1:g.82967_82970delinsGAGA , LRG_465:g.82967_82970delinsGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3983+217_3983+220delinsGAGA MANE Select	ENSP00000348089.5:n.3983+217_3983+220delinsGAGA
ENST00000679552.1:n.1054+217_1054+220delinsGAGA
ENST00000679871.1:n.1129+217_1129+220delinsGAGA
ENST00000679974.1:n.1032+217_1032+220delinsGAGA
ENST00000681632.1:n.5386+217_5386+220delinsGAGA
ENST00000681659.1:c.3824+217_3824+220delinsGAGA	ENSP00000505631.1:n.3824+217_3824+220delinsGAGA
ENST00000355832.9:c.3983+217_3983+220delinsGAGA	ENSP00000348089.5:n.3983+217_3983+220delinsGAGA
ENST00000465653.1:n.305+217_305+220delinsGAGA
ENST00000623073.3:c.*2279+217_*2279+220delinsGAGA	ENSP00000485650.1:n.*2279+217_*2279+220delinsGAGA
ENST00000623115.3:c.2093+217_2093+220delinsGAGA	ENSP00000485321.1:n.2093+217_2093+220delinsGAGA
ENST00000624341.3:c.1815+217_1815+220delinsGAGA
NM_000124.3:c.3983+217_3983+220delinsGAGA	NP_000115.1:n.3983+217_3983+220delinsGAGA
XR_945953.1:n.243-10433_243-10430delinsTCTC
NM_001346440.1:c.3983+217_3983+220delinsGAGA	NP_001333369.1:n.3983+217_3983+220delinsGAGA
NM_000124.4:c.3983+217_3983+220delinsGAGA MANE Select	NP_000115.1:n.3983+217_3983+220delinsGAGA
NM_001346440.2:c.3983+217_3983+220delinsGAGA	NP_001333369.1:n.3983+217_3983+220delinsGAGA