Canonical Allele Identifier: CA2660145

Gene: HPS3

Linked Data

• ClinVar Variation Id: 662551
• ClinVar RCV Id: RCV000820215 ; RCV001095689
• dbSNP Id: rs778152054
• ExAC: 3:148875307 CTG / C
• gnomAD v2: 3-148875307-CTG-C
• gnomAD v4: 3-149157520-CTG-C
• MyVariant Identifiers: chr3:g.148875308_148875309del (hg19) ; chr3:g.149157521_149157522del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149157522_149157523del , CM000665.2:g.149157522_149157523del	GRCh38
NC_000003.11:g.148875309_148875310del , CM000665.1:g.148875309_148875310del	GRCh37
NC_000003.10:g.150357999_150358000del	NCBI36
NG_009847.1:g.32939_32940del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.1682_1683del MANE Select	ENSP00000296051.2:p.Cys561LeufsTer5
ENST00000296051.6:c.1682_1683del	ENSP00000296051.2:p.Cys561LeufsTer5
ENST00000460120.5:c.1187_1188del	ENSP00000418230.1:p.Cys396LeufsTer5
NM_001308258.1:c.1187_1188del	NP_001295187.1:p.Cys396LeufsTer5
NM_032383.3:c.1682_1683del	NP_115759.2:p.Cys561LeufsTer5
NM_032383.4:c.1682_1683del	NP_115759.2:p.Cys561LeufsTer5
XM_005247834.3:c.1682_1683del	XP_005247891.1:p.Cys561LeufsTer5
XM_006713788.1:c.1682_1683del	XP_006713851.1:p.Cys561LeufsTer5
XR_924201.1:n.1797_1798del
XM_005247834.4:c.1682_1683del	XP_005247891.1:p.Cys561LeufsTer5
XM_017007323.2:c.1682_1683del	XP_016862812.1:p.Cys561LeufsTer5
XR_001740326.2:n.1782_1783del
XR_001740327.2:n.1782_1783del
XR_001740328.2:n.1782_1783del
XR_924201.3:n.1782_1783del
NM_001308258.2:c.1187_1188del	NP_001295187.1:p.Cys396LeufsTer5
NM_032383.5:c.1682_1683del MANE Select	NP_115759.2:p.Cys561LeufsTer5