Canonical Allele Identifier: CA1410100429

Gene: HPS3

Linked Data

• dbSNP Id: rs1723532762

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149157556_149157558del , CM000665.2:g.149157556_149157558del	GRCh38
NC_000003.11:g.148875343_148875345del , CM000665.1:g.148875343_148875345del	GRCh37
NC_000003.10:g.150358033_150358035del	NCBI36
NG_009847.1:g.32973_32975del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.1691+25_1691+27del MANE Select	ENSP00000296051.2:n.1691+25_1691+27del
ENST00000296051.6:c.1691+25_1691+27del	ENSP00000296051.2:n.1691+25_1691+27del
ENST00000460120.5:c.1196+25_1196+27del	ENSP00000418230.1:n.1196+25_1196+27del
NM_001308258.1:c.1196+25_1196+27del	NP_001295187.1:n.1196+25_1196+27del
NM_032383.3:c.1691+25_1691+27del	NP_115759.2:n.1691+25_1691+27del
NM_032383.4:c.1691+25_1691+27del	NP_115759.2:n.1691+25_1691+27del
XM_005247834.3:c.1691+25_1691+27del	XP_005247891.1:n.1691+25_1691+27del
XM_006713788.1:c.1691+25_1691+27del	XP_006713851.1:n.1691+25_1691+27del
XR_924201.1:n.1806+25_1806+27del
XM_005247834.4:c.1691+25_1691+27del	XP_005247891.1:n.1691+25_1691+27del
XM_017007323.2:c.1691+25_1691+27del	XP_016862812.1:n.1691+25_1691+27del
XR_001740326.2:n.1791+25_1791+27del
XR_001740327.2:n.1791+25_1791+27del
XR_001740328.2:n.1791+25_1791+27del
XR_924201.3:n.1791+25_1791+27del
NM_001308258.2:c.1196+25_1196+27del	NP_001295187.1:n.1196+25_1196+27del
NM_032383.5:c.1691+25_1691+27del MANE Select	NP_115759.2:n.1691+25_1691+27del