Canonical Allele Identifier: CA1908753011

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49514828_49514835delinsCTTACAGA , CM000672.2:g.49514828_49514835delinsCTTACAGA	GRCh38
NC_000010.10:g.50722874_50722881delinsCTTACAGA , CM000672.1:g.50722874_50722881delinsCTTACAGA	GRCh37
NC_000010.9:g.50392880_50392887delinsCTTACAGA	NCBI36
NG_009442.1:g.29267_29274delinsTCTGTAAG , LRG_465:g.29267_29274delinsTCTGTAAG
NG_033155.1:g.14447_14454delinsTCTGTAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1398-8823_1398-8816delinsTCTGTAAG MANE Select	ENSP00000348089.5:n.1398-8823_1398-8816de...
ENST00000679811.1:n.1481-8823_1481-8816delinsTCTGTAAG
ENST00000680107.1:c.*2264_*2271delinsTCTGTAAG	ENSP00000505909.1:n.*2264_*2271delinsTCTG...
ENST00000681632.1:n.1476-8823_1476-8816delinsTCTGTAAG
ENST00000681659.1:c.1398-8823_1398-8816delinsTCTGTAAG	ENSP00000505631.1:n.1398-8823_1398-8816de...
ENST00000355832.9:c.1398-8823_1398-8816delinsTCTGTAAG	ENSP00000348089.5:n.1398-8823_1398-8816de...
NM_000124.3:c.1398-8823_1398-8816delinsTCTGTAAG	NP_000115.1:n.1398-8823_1398-8816delinsTC...
NM_001346440.1:c.1398-8823_1398-8816delinsTCTGTAAG	NP_001333369.1:n.1398-8823_1398-8816delin...
NM_000124.4:c.1398-8823_1398-8816delinsTCTGTAAG MANE Select	NP_000115.1:n.1398-8823_1398-8816delinsTC...
NM_001346440.2:c.1398-8823_1398-8816delinsTCTGTAAG	NP_001333369.1:n.1398-8823_1398-8816delin...