Canonical Allele Identifier: CA1410100330

Gene: HPS3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149157469_149157470delinsGA , CM000665.2:g.149157469_149157470delinsGA	GRCh38
NC_000003.11:g.148875256_148875257delinsGA , CM000665.1:g.148875256_148875257delinsGA	GRCh37
NC_000003.10:g.150357946_150357947delinsGA	NCBI36
NG_009847.1:g.32886_32887delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.1629_1630delinsGA MANE Select	ENSP00000296051.2:p.Glu543=
ENST00000296051.6:c.1629_1630delinsGA	ENSP00000296051.2:p.Glu543=
ENST00000460120.5:c.1134_1135delinsGA	ENSP00000418230.1:p.Glu378=
NM_001308258.1:c.1134_1135delinsGA	NP_001295187.1:p.Glu378=
NM_032383.3:c.1629_1630delinsGA	NP_115759.2:p.Glu543=
NM_032383.4:c.1629_1630delinsGA	NP_115759.2:p.Glu543=
XM_005247834.3:c.1629_1630delinsGA	XP_005247891.1:p.Glu543=
XM_006713788.1:c.1629_1630delinsGA	XP_006713851.1:p.Glu543=
XR_924201.1:n.1744_1745delinsGA
XM_005247834.4:c.1629_1630delinsGA	XP_005247891.1:p.Glu543=
XM_017007323.2:c.1629_1630delinsGA	XP_016862812.1:p.Glu543=
XR_001740326.2:n.1729_1730delinsGA
XR_001740327.2:n.1729_1730delinsGA
XR_001740328.2:n.1729_1730delinsGA
XR_924201.3:n.1729_1730delinsGA
NM_001308258.2:c.1134_1135delinsGA	NP_001295187.1:p.Glu378=
NM_032383.5:c.1629_1630delinsGA MANE Select	NP_115759.2:p.Glu543=