Canonical Allele Identifier: CA2552612041

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242357_50242358insAGAGCCTACAACCACCACTAAATCACATTGTTTTGCTAATTCACGCACCGCTTCT , CM000677.2:g.50242357_50242358insAGAGCCTACAACCACCACTAAATCACATTGTTTTGCTAATTCACGCACCGCTTCT	GRCh38
NC_000015.9:g.50534554_50534555insAGAGCCTACAACCACCACTAAATCACATTGTTTTGCTAATTCACGCACCGCTTCT , CM000677.1:g.50534554_50534555insAGAGCCTACAACCACCACTAAATCACATTGTTTTGCTAATTCACGCACCGCTTCT	GRCh37
NC_000015.8:g.48321846_48321847insAGAGCCTACAACCACCACTAAATCACATTGTTTTGCTAATTCACGCACCGCTTCT	NCBI36
NG_027487.1:g.28609_28610insGAAGCGGTGCGTGAATTAGCAAAACAATGTGATTTAGTGGTGGTTGTAGGCTCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1892_1893insGAAGCGGTGCGTGAATTAGCAAAACAATGTGATTTAGTGGTGGTTGTAGGCTCTA MANE Select	ENSP00000267845.3:p.Leu633ArgfsTer5
ENST00000267845.7:c.1892_1893insGAAGCGGTGCGTGAATTAGCAAAACAATGTGATTTAGTGGTGGTTGTAGGCTCTA	ENSP00000267845.3:p.Leu633ArgfsTer5
ENST00000543581.5:c.1793_1794insGAAGCGGTGCGTGAATTAGCAAAACAATGTGATTTAGTGGTGGTTGTAGGCTCTA	ENSP00000440252.1:p.Leu600ArgfsTer5
ENST00000559816.1:n.1636_1637insGAAGCGGTGCGTGAATTAGCAAAACAATGTGATTTAGTGGTGGTTGTAGGCTCTA
NM_001306146.1:c.1793_1794insGAAGCGGTGCGTGAATTAGCAAAACAATGTGATTTAGTGGTGGTTGTAGGCTCTA	NP_001293075.1:p.Leu600ArgfsTer5
NM_002112.3:c.1892_1893insGAAGCGGTGCGTGAATTAGCAAAACAATGTGATTTAGTGGTGGTTGTAGGCTCTA	NP_002103.2:p.Leu633ArgfsTer5
XM_011521479.1:c.1655_1656insGAAGCGGTGCGTGAATTAGCAAAACAATGTGATTTAGTGGTGGTTGTAGGCTCTA	XP_011519781.1:p.Leu554ArgfsTer5
XM_011521480.1:c.1460_1461insGAAGCGGTGCGTGAATTAGCAAAACAATGTGATTTAGTGGTGGTTGTAGGCTCTA	XP_011519782.1:p.Leu489ArgfsTer5
XM_017022094.1:c.1997_1998insGAAGCGGTGCGTGAATTAGCAAAACAATGTGATTTAGTGGTGGTTGTAGGCTCTA	XP_016877583.1:p.Leu668ArgfsTer5
XM_017022095.1:c.1898_1899insGAAGCGGTGCGTGAATTAGCAAAACAATGTGATTTAGTGGTGGTTGTAGGCTCTA	XP_016877584.1:p.Leu635ArgfsTer5
XM_017022096.1:c.1769_1770insGAAGCGGTGCGTGAATTAGCAAAACAATGTGATTTAGTGGTGGTTGTAGGCTCTA	XP_016877585.1:p.Leu592ArgfsTer5
XM_017022097.1:c.1760_1761insGAAGCGGTGCGTGAATTAGCAAAACAATGTGATTTAGTGGTGGTTGTAGGCTCTA	XP_016877586.1:p.Leu589ArgfsTer5
XM_017022098.1:c.1565_1566insGAAGCGGTGCGTGAATTAGCAAAACAATGTGATTTAGTGGTGGTTGTAGGCTCTA	XP_016877587.1:p.Leu524ArgfsTer5
NM_002112.4:c.1892_1893insGAAGCGGTGCGTGAATTAGCAAAACAATGTGATTTAGTGGTGGTTGTAGGCTCTA MANE Select	NP_002103.2:p.Leu633ArgfsTer5
NM_001306146.2:c.1793_1794insGAAGCGGTGCGTGAATTAGCAAAACAATGTGATTTAGTGGTGGTTGTAGGCTCTA	NP_001293075.1:p.Leu600ArgfsTer5