Canonical Allele Identifier: CA2628396034

Gene: HDC

Linked Data

• gnomAD v4: 15-50242150-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242154del , CM000677.2:g.50242154del	GRCh38
NC_000015.9:g.50534351del , CM000677.1:g.50534351del	GRCh37
NC_000015.8:g.48321643del	NCBI36
NG_027487.1:g.28815del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.*109del MANE Select	ENSP00000267845.3:n.*109del
ENST00000267845.7:c.*109del	ENSP00000267845.3:n.*109del
ENST00000543581.5:c.*109del	ENSP00000440252.1:n.*109del
ENST00000559816.1:n.1842del
NM_001306146.1:c.*109del	NP_001293075.1:n.*109del
NM_002112.3:c.*109del	NP_002103.2:n.*109del
XM_011521479.1:c.*109del	XP_011519781.1:n.*109del
XM_011521480.1:c.*109del	XP_011519782.1:n.*109del
XM_017022094.1:c.*109del	XP_016877583.1:n.*109del
XM_017022095.1:c.*109del	XP_016877584.1:n.*109del
XM_017022096.1:c.*109del	XP_016877585.1:n.*109del
XM_017022097.1:c.*109del	XP_016877586.1:n.*109del
XM_017022098.1:c.*109del	XP_016877587.1:n.*109del
NM_002112.4:c.*109del MANE Select	NP_002103.2:n.*109del
NM_001306146.2:c.*109del	NP_001293075.1:n.*109del