Canonical Allele Identifier: CA1410093974

Gene: HPS3

Linked Data

• dbSNP Id: rs1722750162
• gnomAD v3: 3-149145740-CTTTG-C
• gnomAD v4: 3-149145740-CTTTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149145748_149145751del , CM000665.2:g.149145748_149145751del	GRCh38
NC_000003.11:g.148863535_148863538del , CM000665.1:g.148863535_148863538del	GRCh37
NC_000003.10:g.150346225_150346228del	NCBI36
NG_009847.1:g.21165_21168del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.1163+202_1163+205del MANE Select	ENSP00000296051.2:n.1163+202_1163+205del
ENST00000296051.6:c.1163+202_1163+205del	ENSP00000296051.2:n.1163+202_1163+205del
ENST00000460120.5:c.668+202_668+205del	ENSP00000418230.1:n.668+202_668+205del
ENST00000462030.5:n.1762+202_1762+205del
ENST00000486530.1:n.1196+202_1196+205del
NM_001308258.1:c.668+202_668+205del	NP_001295187.1:n.668+202_668+205del
NM_032383.3:c.1163+202_1163+205del	NP_115759.2:n.1163+202_1163+205del
NM_032383.4:c.1163+202_1163+205del	NP_115759.2:n.1163+202_1163+205del
XM_005247834.3:c.1163+202_1163+205del	XP_005247891.1:n.1163+202_1163+205del
XM_006713788.1:c.1163+202_1163+205del	XP_006713851.1:n.1163+202_1163+205del
XR_924201.1:n.1278+202_1278+205del
XM_005247834.4:c.1163+202_1163+205del	XP_005247891.1:n.1163+202_1163+205del
XM_017007323.2:c.1163+202_1163+205del	XP_016862812.1:n.1163+202_1163+205del
XR_001740326.2:n.1263+202_1263+205del
XR_001740327.2:n.1263+202_1263+205del
XR_001740328.2:n.1263+202_1263+205del
XR_924201.3:n.1263+202_1263+205del
NM_001308258.2:c.668+202_668+205del	NP_001295187.1:n.668+202_668+205del
NM_032383.5:c.1163+202_1163+205del MANE Select	NP_115759.2:n.1163+202_1163+205del