Canonical Allele Identifier: CA1410093926

Gene: HPS3

Linked Data

• dbSNP Id: rs1722745378
• gnomAD v4: 3-149145645-T-TTCAC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149145645_149145646insTCAC , CM000665.2:g.149145645_149145646insTCAC	GRCh38
NC_000003.11:g.148863432_148863433insTCAC , CM000665.1:g.148863432_148863433insTCAC	GRCh37
NC_000003.10:g.150346122_150346123insTCAC	NCBI36
NG_009847.1:g.21062_21063insTCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.1163+99_1163+100insTCAC MANE Select	ENSP00000296051.2:n.1163+99_1163+100insTCAC
ENST00000296051.6:c.1163+99_1163+100insTCAC	ENSP00000296051.2:n.1163+99_1163+100insTCAC
ENST00000460120.5:c.668+99_668+100insTCAC	ENSP00000418230.1:n.668+99_668+100insTCAC
ENST00000462030.5:n.1762+99_1762+100insTCAC
ENST00000486530.1:n.1196+99_1196+100insTCAC
NM_001308258.1:c.668+99_668+100insTCAC	NP_001295187.1:n.668+99_668+100insTCAC
NM_032383.3:c.1163+99_1163+100insTCAC	NP_115759.2:n.1163+99_1163+100insTCAC
NM_032383.4:c.1163+99_1163+100insTCAC	NP_115759.2:n.1163+99_1163+100insTCAC
XM_005247834.3:c.1163+99_1163+100insTCAC	XP_005247891.1:n.1163+99_1163+100insTCAC
XM_006713788.1:c.1163+99_1163+100insTCAC	XP_006713851.1:n.1163+99_1163+100insTCAC
XR_924201.1:n.1278+99_1278+100insTCAC
XM_005247834.4:c.1163+99_1163+100insTCAC	XP_005247891.1:n.1163+99_1163+100insTCAC
XM_017007323.2:c.1163+99_1163+100insTCAC	XP_016862812.1:n.1163+99_1163+100insTCAC
XR_001740326.2:n.1263+99_1263+100insTCAC
XR_001740327.2:n.1263+99_1263+100insTCAC
XR_001740328.2:n.1263+99_1263+100insTCAC
XR_924201.3:n.1263+99_1263+100insTCAC
NM_001308258.2:c.668+99_668+100insTCAC	NP_001295187.1:n.668+99_668+100insTCAC
NM_032383.5:c.1163+99_1163+100insTCAC MANE Select	NP_115759.2:n.1163+99_1163+100insTCAC