Canonical Allele Identifier: CA618010227

Gene: HDC

Linked Data

• gnomAD v2: 15-50534553-T-TTAGAACCTACAACGACCACTAAATCACATTGTTTCGCTAATTCACGCACCGCTTCTTGTCGATTAGTTGTTGCATAGCAAATATCGTTTTTATGTGGGCC
• MyVariant Identifiers: chr15:g.50534553_50534554insTAGAACCTACAACGACCACTAAATCACATTGTTTCGCTAATTCACGCACCGCTTCTTGTCGATTAGTTGTTGCATAGCAAATATCGTTTTTATGTGGGCC (hg19) ; chr15:g.50242356_50242357insTAGAACCTACAACGACCACTAAATCACATTGTTTCGCTAATTCACGCACCGCTTCTTGTCGATTAGTTGTTGCATAGCAAATATCGTTTTTATGTGGGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242357_50242358insAGAACCTACAACGACCACTAAATCACATTGTTTCGCTAATTCACGCACCGCTTCTTGTCGATTAGTTGTTGCATAGCAAATATCGTTTTTATGTGGGCCT , CM000677.2:g.50242357_50242358insAGAACCTACAACGACCACTAAATCACATTGTTTCGCTAATTCACGCACCGCTTCTTGTCGATTAGTTGTTGCATAGCAAATATCGTTTTTATGTGGGCCT	GRCh38
NC_000015.9:g.50534554_50534555insAGAACCTACAACGACCACTAAATCACATTGTTTCGCTAATTCACGCACCGCTTCTTGTCGATTAGTTGTTGCATAGCAAATATCGTTTTTATGTGGGCCT , CM000677.1:g.50534554_50534555insAGAACCTACAACGACCACTAAATCACATTGTTTCGCTAATTCACGCACCGCTTCTTGTCGATTAGTTGTTGCATAGCAAATATCGTTTTTATGTGGGCCT	GRCh37
NC_000015.8:g.48321846_48321847insAGAACCTACAACGACCACTAAATCACATTGTTTCGCTAATTCACGCACCGCTTCTTGTCGATTAGTTGTTGCATAGCAAATATCGTTTTTATGTGGGCCT	NCBI36
NG_027487.1:g.28609_28610insGGCCCACATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1892_1893insGGCCCACATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA MANE Select	ENSP00000267845.3:p.Lys632AlafsTer21
ENST00000267845.7:c.1892_1893insGGCCCACATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA	ENSP00000267845.3:p.Lys632AlafsTer21
ENST00000543581.5:c.1793_1794insGGCCCACATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA	ENSP00000440252.1:p.Lys599AlafsTer21
ENST00000559816.1:n.1636_1637insGGCCCACATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA
NM_001306146.1:c.1793_1794insGGCCCACATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA	NP_001293075.1:p.Lys599AlafsTer21
NM_002112.3:c.1892_1893insGGCCCACATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA	NP_002103.2:p.Lys632AlafsTer21
XM_011521479.1:c.1655_1656insGGCCCACATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA	XP_011519781.1:p.Lys553AlafsTer21
XM_011521480.1:c.1460_1461insGGCCCACATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA	XP_011519782.1:p.Lys488AlafsTer21
XM_017022094.1:c.1997_1998insGGCCCACATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA	XP_016877583.1:p.Lys667AlafsTer21
XM_017022095.1:c.1898_1899insGGCCCACATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA	XP_016877584.1:p.Lys634AlafsTer21
XM_017022096.1:c.1769_1770insGGCCCACATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA	XP_016877585.1:p.Lys591AlafsTer21
XM_017022097.1:c.1760_1761insGGCCCACATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA	XP_016877586.1:p.Lys588AlafsTer21
XM_017022098.1:c.1565_1566insGGCCCACATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA	XP_016877587.1:p.Lys523AlafsTer21
NM_002112.4:c.1892_1893insGGCCCACATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA MANE Select	NP_002103.2:p.Lys632AlafsTer21
NM_001306146.2:c.1793_1794insGGCCCACATAAAAACGATATTTGCTATGCAACAACTAATCGACAAGAAGCGGTGCGTGAATTAGCGAAACAATGTGATTTAGTGGTCGTTGTAGGTTCTA	NP_001293075.1:p.Lys599AlafsTer21