Canonical Allele Identifier: CA2543977803

Gene: HCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.45461867_45461868insGCTTGTGAGAAACGGACGAAGTTATCACGACCATACCAAATGATCGAGAAAATACGCGAAAATGTACCTAACGCACGTAAATTGGGGGCTTTCTCTTTACCTGGAGCTCTTCCCCAAAGAA , CM000667.2:g.45461867_45461868insGCTTGTGAGAAACGGACGAAGTTATCACGACCATACCAAATGATCGAGAAAATACGCGAAAATGTACCTAACGCACGTAAATTGGGGGCTTTCTCTTTACCTGGAGCTCTTCCCCAAAGAA	GRCh38
NC_000005.9:g.45461969_45461970insGCTTGTGAGAAACGGACGAAGTTATCACGACCATACCAAATGATCGAGAAAATACGCGAAAATGTACCTAACGCACGTAAATTGGGGGCTTTCTCTTTACCTGGAGCTCTTCCCCAAAGAA , CM000667.1:g.45461969_45461970insGCTTGTGAGAAACGGACGAAGTTATCACGACCATACCAAATGATCGAGAAAATACGCGAAAATGTACCTAACGCACGTAAATTGGGGGCTTTCTCTTTACCTGGAGCTCTTCCCCAAAGAA	GRCh37
NC_000005.8:g.45497726_45497727insGCTTGTGAGAAACGGACGAAGTTATCACGACCATACCAAATGATCGAGAAAATACGCGAAAATGTACCTAACGCACGTAAATTGGGGGCTTTCTCTTTACCTGGAGCTCTTCCCCAAAGAA	NCBI36
NG_042183.1:g.239251_239252insTTCTTTGGGGAAGAGCTCCAGGTAAAGAGAAAGCCCCCAATTTACGTGCGTTAGGTACATTTTCGCGTATTTTCTCGATCATTTGGTATGGTCGTGATAACTTCGTCCGTTTCTCACAAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303230.6:c.989_990insTTCTTTGGGGAAGAGCTCCAGGTAAAGAGAAAGCCCCCAATTTACGTGCGTTAGGTACATTTTCGCGTATTTTCTCGATCATTTGGTATGGTCGTGATAACTTCGTCCGTTTCTCACAAGC MANE Select	ENSP00000307342.4:p.Trp330CysfsTer9
ENST00000637305.1:n.152_153insTTCTTTGGGGAAGAGCTCCAGGTAAAGAGAAAGCCCCCAATTTACGTGCGTTAGGTACATTTTCGCGTATTTTCTCGATCATTTGGTATGGTCGTGATAACTTCGTCCGTTTCTCACAAGC
ENST00000673735.1:c.989_990insTTCTTTGGGGAAGAGCTCCAGGTAAAGAGAAAGCCCCCAATTTACGTGCGTTAGGTACATTTTCGCGTATTTTCTCGATCATTTGGTATGGTCGTGATAACTTCGTCCGTTTCTCACAAGC	ENSP00000501107.1:p.Trp330CysfsTer9
ENST00000303230.5:c.989_990insTTCTTTGGGGAAGAGCTCCAGGTAAAGAGAAAGCCCCCAATTTACGTGCGTTAGGTACATTTTCGCGTATTTTCTCGATCATTTGGTATGGTCGTGATAACTTCGTCCGTTTCTCACAAGC	ENSP00000307342.4:p.Trp330CysfsTer9
NM_021072.3:c.989_990insTTCTTTGGGGAAGAGCTCCAGGTAAAGAGAAAGCCCCCAATTTACGTGCGTTAGGTACATTTTCGCGTATTTTCTCGATCATTTGGTATGGTCGTGATAACTTCGTCCGTTTCTCACAAGC	NP_066550.2:p.Trp330CysfsTer9
NM_021072.4:c.989_990insTTCTTTGGGGAAGAGCTCCAGGTAAAGAGAAAGCCCCCAATTTACGTGCGTTAGGTACATTTTCGCGTATTTTCTCGATCATTTGGTATGGTCGTGATAACTTCGTCCGTTTCTCACAAGC MANE Select	NP_066550.2:p.Trp330CysfsTer9