Canonical Allele Identifier: CA2176326506

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242251_50242252delinsGC , CM000677.2:g.50242251_50242252delinsGC	GRCh38
NC_000015.9:g.50534448_50534449delinsGC , CM000677.1:g.50534448_50534449delinsGC	GRCh37
NC_000015.8:g.48321740_48321741delinsGC	NCBI36
NG_027487.1:g.28714_28715delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.*8_*9delinsGC MANE Select	ENSP00000267845.3:n.*8_*9delinsGC
ENST00000267845.7:c.*8_*9delinsGC	ENSP00000267845.3:n.*8_*9delinsGC
ENST00000543581.5:c.*8_*9delinsGC	ENSP00000440252.1:n.*8_*9delinsGC
ENST00000559816.1:n.1741_1742delinsGC
NM_001306146.1:c.*8_*9delinsGC	NP_001293075.1:n.*8_*9delinsGC
NM_002112.3:c.*8_*9delinsGC	NP_002103.2:n.*8_*9delinsGC
XM_011521479.1:c.*8_*9delinsGC	XP_011519781.1:n.*8_*9delinsGC
XM_011521480.1:c.*8_*9delinsGC	XP_011519782.1:n.*8_*9delinsGC
XM_017022094.1:c.*8_*9delinsGC	XP_016877583.1:n.*8_*9delinsGC
XM_017022095.1:c.*8_*9delinsGC	XP_016877584.1:n.*8_*9delinsGC
XM_017022096.1:c.*8_*9delinsGC	XP_016877585.1:n.*8_*9delinsGC
XM_017022097.1:c.*8_*9delinsGC	XP_016877586.1:n.*8_*9delinsGC
XM_017022098.1:c.*8_*9delinsGC	XP_016877587.1:n.*8_*9delinsGC
NM_002112.4:c.*8_*9delinsGC MANE Select	NP_002103.2:n.*8_*9delinsGC
NM_001306146.2:c.*8_*9delinsGC	NP_001293075.1:n.*8_*9delinsGC