Canonical Allele Identifier: CA2621466269

Gene: HPD

Linked Data

• gnomAD v4: 12-121846828-A-AGAGAGGAATTCGGACAGGGACGGTCTCTGCAAAATT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121846848_121846849insCGGTCTCTGCAAAATTGAGAGGAATTCGGACAGGGA , CM000674.2:g.121846848_121846849insCGGTCTCTGCAAAATTGAGAGGAATTCGGACAGGGA	GRCh38
NC_000012.11:g.122284754_122284755insCGGTCTCTGCAAAATTGAGAGGAATTCGGACAGGGA , CM000674.1:g.122284754_122284755insCGGTCTCTGCAAAATTGAGAGGAATTCGGACAGGGA	GRCh37
NC_000012.10:g.120769137_120769138insCGGTCTCTGCAAAATTGAGAGGAATTCGGACAGGGA	NCBI36
NG_016461.1:g.46783_46784insAATTTTGCAGAGACCGTCCCTGTCCGAATTCCTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.831+33_831+34insAATTTTGCAGAGACCGTCCCTGTCCGAATTCCTCTC MANE Select	ENSP00000289004.4:n.831+33_831+34insAATTTTGCAGAGACCGTCCCTGTCC...
ENST00000543163.5:c.714+33_714+34insAATTTTGCAGAGACCGTCCCTGTCCGAATTCCTCTC	ENSP00000441677.1:n.714+33_714+34insAATTTTGCAGAGACCGTCCCTGTCC...
NM_001171993.1:c.714+33_714+34insAATTTTGCAGAGACCGTCCCTGTCCGAATTCCTCTC	NP_001165464.1:n.714+33_714+34insAATTTTGCAGAGACCGTCCCTGTCCGAA...
NM_002150.2:c.831+33_831+34insAATTTTGCAGAGACCGTCCCTGTCCGAATTCCTCTC	NP_002141.1:n.831+33_831+34insAATTTTGCAGAGACCGTCCCTGTCCGAATTC...
NM_002150.3:c.831+33_831+34insAATTTTGCAGAGACCGTCCCTGTCCGAATTCCTCTC MANE Select	NP_002141.2:n.831+33_831+34insAATTTTGCAGAGACCGTCCCTGTCCGAATTC...
NM_001171993.2:c.714+33_714+34insAATTTTGCAGAGACCGTCCCTGTCCGAATTCCTCTC	NP_001165464.1:n.714+33_714+34insAATTTTGCAGAGACCGTCCCTGTCCGAA...