Canonical Allele Identifier: CA928219796

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49514826_49514827insATTAGTCTAATTTGTAAGGGATTCTTAGCTGTCTGAAAAGAATC , CM000672.2:g.49514826_49514827insATTAGTCTAATTTGTAAGGGATTCTTAGCTGTCTGAAAAGAATC	GRCh38
NC_000010.10:g.50722872_50722873insATTAGTCTAATTTGTAAGGGATTCTTAGCTGTCTGAAAAGAATC , CM000672.1:g.50722872_50722873insATTAGTCTAATTTGTAAGGGATTCTTAGCTGTCTGAAAAGAATC	GRCh37
NC_000010.9:g.50392878_50392879insATTAGTCTAATTTGTAAGGGATTCTTAGCTGTCTGAAAAGAATC	NCBI36
NG_009442.1:g.29275_29276insGATTCTTTTCAGACAGCTAAGAATCCCTTACAAATTAGACTAAT , LRG_465:g.29275_29276insGATTCTTTTCAGACAGCTAAGAATCCCTTACAAATTAGACTAAT
NG_033155.1:g.14455_14456insGATTCTTTTCAGACAGCTAAGAATCCCTTACAAATTAGACTAAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1398-8815_1398-8814insGATTCTTTTCAGACAGCTAAGAATCCCTTACAAATTAGACTAAT MANE Select	ENSP00000348089.5:n.1398-8815_1398-8814in...
ENST00000679811.1:n.1481-8815_1481-8814insGATTCTTTTCAGACAGCTAAGAATCCCTTACAAATTAGACTAAT
ENST00000680107.1:c.*2272_*2273insGATTCTTTTCAGACAGCTAAGAATCCCTTACAAATTAGACTAAT	ENSP00000505909.1:n.*2272_*2273insGATTCTT...
ENST00000681632.1:n.1476-8815_1476-8814insGATTCTTTTCAGACAGCTAAGAATCCCTTACAAATTAGACTAAT
ENST00000681659.1:c.1398-8815_1398-8814insGATTCTTTTCAGACAGCTAAGAATCCCTTACAAATTAGACTAAT	ENSP00000505631.1:n.1398-8815_1398-8814in...
ENST00000355832.9:c.1398-8815_1398-8814insGATTCTTTTCAGACAGCTAAGAATCCCTTACAAATTAGACTAAT	ENSP00000348089.5:n.1398-8815_1398-8814in...
NM_000124.3:c.1398-8815_1398-8814insGATTCTTTTCAGACAGCTAAGAATCCCTTACAAATTAGACTAAT	NP_000115.1:n.1398-8815_1398-8814insGATTC...
NM_001346440.1:c.1398-8815_1398-8814insGATTCTTTTCAGACAGCTAAGAATCCCTTACAAATTAGACTAAT	NP_001333369.1:n.1398-8815_1398-8814insGA...
NM_000124.4:c.1398-8815_1398-8814insGATTCTTTTCAGACAGCTAAGAATCCCTTACAAATTAGACTAAT MANE Select	NP_000115.1:n.1398-8815_1398-8814insGATTC...
NM_001346440.2:c.1398-8815_1398-8814insGATTCTTTTCAGACAGCTAAGAATCCCTTACAAATTAGACTAAT	NP_001333369.1:n.1398-8815_1398-8814insGA...