Canonical Allele Identifier: CA2660127

Gene: HPS3

Linked Data

• ClinVar Variation Id: 1454818
• ClinVar RCV Id: RCV001939591 ; RCV003471160
• dbSNP Id: rs756611897
• ExAC: 3:148875174 A / AGAGCTGCATTCACCTTCTCAGTGAGGCTCATCTGTTAGTGC
• gnomAD v2: 3-148875174-A-AGAGCTGCATTCACCTTCTCAGTGAGGCTCATCTGTTAGTGC
• gnomAD v4: 3-149157387-A-AGAGCTGCATTCACCTTCTCAGTGAGGCTCATCTGTTAGTGC
• MyVariant Identifiers: chr3:g.148875174_148875175insGAGCTGCATTCACCTTCTCAGTGAGGCTCATCTGTTAGTGC (hg19) ; chr3:g.149157387_149157388insGAGCTGCATTCACCTTCTCAGTGAGGCTCATCTGTTAGTGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149157395_149157435dup , CM000665.2:g.149157395_149157435dup	GRCh38
NC_000003.11:g.148875182_148875222dup , CM000665.1:g.148875182_148875222dup	GRCh37
NC_000003.10:g.150357872_150357912dup	NCBI36
NG_009847.1:g.32812_32852dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.1555_1595dup MANE Select	ENSP00000296051.2:p.Leu533PhefsTer10
ENST00000296051.6:c.1555_1595dup	ENSP00000296051.2:p.Leu533PhefsTer10
ENST00000460120.5:c.1060_1100dup	ENSP00000418230.1:p.Leu368PhefsTer10
NM_001308258.1:c.1060_1100dup	NP_001295187.1:p.Leu368PhefsTer10
NM_032383.3:c.1555_1595dup	NP_115759.2:p.Leu533PhefsTer10
NM_032383.4:c.1555_1595dup	NP_115759.2:p.Leu533PhefsTer10
XM_005247834.3:c.1555_1595dup	XP_005247891.1:p.Leu533PhefsTer10
XM_006713788.1:c.1555_1595dup	XP_006713851.1:p.Leu533PhefsTer10
XR_924201.1:n.1670_1710dup
XM_005247834.4:c.1555_1595dup	XP_005247891.1:p.Leu533PhefsTer10
XM_017007323.2:c.1555_1595dup	XP_016862812.1:p.Leu533PhefsTer10
XR_001740326.2:n.1655_1695dup
XR_001740327.2:n.1655_1695dup
XR_001740328.2:n.1655_1695dup
XR_924201.3:n.1655_1695dup
NM_001308258.2:c.1060_1100dup	NP_001295187.1:p.Leu368PhefsTer10
NM_032383.5:c.1555_1595dup MANE Select	NP_115759.2:p.Leu533PhefsTer10