Canonical Allele Identifier: CA2499901272
Gene: HDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.50242362_50242363insCAAATATCGTTTTTATGTGGACCTTGAATCGCAGGATATTTATCTTTCAAT , CM000677.2:g.50242362_50242363insCAAATATCGTTTTTATGTGGACCTTGAATCGCAGGATATTTATCTTTCAAT GRCh38
NC_000015.9:g.50534559_50534560insCAAATATCGTTTTTATGTGGACCTTGAATCGCAGGATATTTATCTTTCAAT , CM000677.1:g.50534559_50534560insCAAATATCGTTTTTATGTGGACCTTGAATCGCAGGATATTTATCTTTCAAT GRCh37
NC_000015.8:g.48321851_48321852insCAAATATCGTTTTTATGTGGACCTTGAATCGCAGGATATTTATCTTTCAAT NCBI36
NG_027487.1:g.28603_28604insATTGAAAGATAAATATCCTGCGATTCAAGGTCCACATAAAAACGATATTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000267845.8:c.1886_1887insATTGAAAGATAAATATCCTGCGATTCAAGGTCCACATAAAAACGATATTTG MANE Select ENSP00000267845.3:p.Ala629_Phe630insLeuLysAspLysTyrProAlaIleG...
ENST00000267845.7:c.1886_1887insATTGAAAGATAAATATCCTGCGATTCAAGGTCCACATAAAAACGATATTTG ENSP00000267845.3:p.Ala629_Phe630insLeuLysAspLysTyrProAlaIleG...
ENST00000543581.5:c.1787_1788insATTGAAAGATAAATATCCTGCGATTCAAGGTCCACATAAAAACGATATTTG ENSP00000440252.1:p.Ala596_Phe597insLeuLysAspLysTyrProAlaIleG...
ENST00000559816.1:n.1630_1631insATTGAAAGATAAATATCCTGCGATTCAAGGTCCACATAAAAACGATATTTG
NM_001306146.1:c.1787_1788insATTGAAAGATAAATATCCTGCGATTCAAGGTCCACATAAAAACGATATTTG NP_001293075.1:p.Ala596_Phe597insLeuLysAspLysTyrProAlaIleGlnG...
NM_002112.3:c.1886_1887insATTGAAAGATAAATATCCTGCGATTCAAGGTCCACATAAAAACGATATTTG NP_002103.2:p.Ala629_Phe630insLeuLysAspLysTyrProAlaIleGlnGlyP...
XM_011521479.1:c.1649_1650insATTGAAAGATAAATATCCTGCGATTCAAGGTCCACATAAAAACGATATTTG XP_011519781.1:p.Ala550_Phe551insLeuLysAspLysTyrProAlaIleGlnG...
XM_011521480.1:c.1454_1455insATTGAAAGATAAATATCCTGCGATTCAAGGTCCACATAAAAACGATATTTG XP_011519782.1:p.Ala485_Phe486insLeuLysAspLysTyrProAlaIleGlnG...
XM_017022094.1:c.1991_1992insATTGAAAGATAAATATCCTGCGATTCAAGGTCCACATAAAAACGATATTTG XP_016877583.1:p.Ala664_Phe665insLeuLysAspLysTyrProAlaIleGlnG...
XM_017022095.1:c.1892_1893insATTGAAAGATAAATATCCTGCGATTCAAGGTCCACATAAAAACGATATTTG XP_016877584.1:p.Ala631_Phe632insLeuLysAspLysTyrProAlaIleGlnG...
XM_017022096.1:c.1763_1764insATTGAAAGATAAATATCCTGCGATTCAAGGTCCACATAAAAACGATATTTG XP_016877585.1:p.Ala588_Phe589insLeuLysAspLysTyrProAlaIleGlnG...
XM_017022097.1:c.1754_1755insATTGAAAGATAAATATCCTGCGATTCAAGGTCCACATAAAAACGATATTTG XP_016877586.1:p.Ala585_Phe586insLeuLysAspLysTyrProAlaIleGlnG...
XM_017022098.1:c.1559_1560insATTGAAAGATAAATATCCTGCGATTCAAGGTCCACATAAAAACGATATTTG XP_016877587.1:p.Ala520_Phe521insLeuLysAspLysTyrProAlaIleGlnG...
NM_002112.4:c.1886_1887insATTGAAAGATAAATATCCTGCGATTCAAGGTCCACATAAAAACGATATTTG MANE Select NP_002103.2:p.Ala629_Phe630insLeuLysAspLysTyrProAlaIleGlnGlyP...
NM_001306146.2:c.1787_1788insATTGAAAGATAAATATCCTGCGATTCAAGGTCCACATAAAAACGATATTTG NP_001293075.1:p.Ala596_Phe597insLeuLysAspLysTyrProAlaIleGlnG...