Canonical Allele Identifier: CA6839516

Gene: HPD

Linked Data

• dbSNP Id: rs749365084
• ExAC: 12:122284732 TGA / T
• gnomAD v2: 12-122284732-TGA-T
• gnomAD v4: 12-121846826-TGA-T
• MyVariant Identifiers: chr12:g.122284733_122284734del (hg19) ; chr12:g.121846827_121846828del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121846832_121846833del , CM000674.2:g.121846832_121846833del	GRCh38
NC_000012.11:g.122284738_122284739del , CM000674.1:g.122284738_122284739del	GRCh37
NC_000012.10:g.120769121_120769122del	NCBI36
NG_016461.1:g.46784_46785del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.831+34_831+35del MANE Select	ENSP00000289004.4:n.831+34_831+35del
ENST00000543163.5:c.714+34_714+35del	ENSP00000441677.1:n.714+34_714+35del
NM_001171993.1:c.714+34_714+35del	NP_001165464.1:n.714+34_714+35del
NM_002150.2:c.831+34_831+35del	NP_002141.1:n.831+34_831+35del
NM_002150.3:c.831+34_831+35del MANE Select	NP_002141.2:n.831+34_831+35del
NM_001171993.2:c.714+34_714+35del	NP_001165464.1:n.714+34_714+35del