Canonical Allele Identifier: CA2547369118

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242357_50242358insAGAACCTACAACGACCACTAAATCACATTGTTTCGCTAATTCACGCACCGCTTCTTGTCGATTAGTTGTTGCATAGCAAATATCGTTTTTATGCGGACCT , CM000677.2:g.50242357_50242358insAGAACCTACAACGACCACTAAATCACATTGTTTCGCTAATTCACGCACCGCTTCTTGTCGATTAGTTGTTGCATAGCAAATATCGTTTTTATGCGGACCT	GRCh38
NC_000015.9:g.50534554_50534555insAGAACCTACAACGACCACTAAATCACATTGTTTCGCTAATTCACGCACCGCTTCTTGTCGATTAGTTGTTGCATAGCAAATATCGTTTTTATGCGGACCT , CM000677.1:g.50534554_50534555insAGAACCTACAACGACCACTAAATCACATTGTTTCGCTAATTCACGCACCGCTTCTTGTCGATTAGTTGTTGCATAGCAAATATCGTTTTTATGCGGACCT	GRCh37
NC_000015.8:g.48321846_48321847insAGAACCTACAACGACCACTAAATCACATTGTTTCGCTAATTCACGCACCGCTTCTTGTCGATTAGTTGTTGCATAGCAAATATCGTTTTTATGCGGACCT	NCBI36
NG_027487.1:g.28609_28610insGGTCCGCATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1892_1893insGGTCCGCATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA MANE Select	ENSP00000267845.3:p.Lys632ValfsTer21
ENST00000267845.7:c.1892_1893insGGTCCGCATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA	ENSP00000267845.3:p.Lys632ValfsTer21
ENST00000543581.5:c.1793_1794insGGTCCGCATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA	ENSP00000440252.1:p.Lys599ValfsTer21
ENST00000559816.1:n.1636_1637insGGTCCGCATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA
NM_001306146.1:c.1793_1794insGGTCCGCATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA	NP_001293075.1:p.Lys599ValfsTer21
NM_002112.3:c.1892_1893insGGTCCGCATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA	NP_002103.2:p.Lys632ValfsTer21
XM_011521479.1:c.1655_1656insGGTCCGCATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA	XP_011519781.1:p.Lys553ValfsTer21
XM_011521480.1:c.1460_1461insGGTCCGCATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA	XP_011519782.1:p.Lys488ValfsTer21
XM_017022094.1:c.1997_1998insGGTCCGCATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA	XP_016877583.1:p.Lys667ValfsTer21
XM_017022095.1:c.1898_1899insGGTCCGCATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA	XP_016877584.1:p.Lys634ValfsTer21
XM_017022096.1:c.1769_1770insGGTCCGCATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA	XP_016877585.1:p.Lys591ValfsTer21
XM_017022097.1:c.1760_1761insGGTCCGCATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA	XP_016877586.1:p.Lys588ValfsTer21
XM_017022098.1:c.1565_1566insGGTCCGCATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA	XP_016877587.1:p.Lys523ValfsTer21
NM_002112.4:c.1892_1893insGGTCCGCATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA MANE Select	NP_002103.2:p.Lys632ValfsTer21
NM_001306146.2:c.1793_1794insGGTCCGCATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA	NP_001293075.1:p.Lys599ValfsTer21