Canonical Allele Identifier: CA1410100395

Gene: HPS3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149157520_149157522delinsCTG , CM000665.2:g.149157520_149157522delinsCTG	GRCh38
NC_000003.11:g.148875307_148875309delinsCTG , CM000665.1:g.148875307_148875309delinsCTG	GRCh37
NC_000003.10:g.150357997_150357999delinsCTG	NCBI36
NG_009847.1:g.32937_32939delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.1680_1682delinsCTG MANE Select	ENSP00000296051.2:p.Asp560=
ENST00000296051.6:c.1680_1682delinsCTG	ENSP00000296051.2:p.Asp560=
ENST00000460120.5:c.1185_1187delinsCTG	ENSP00000418230.1:p.Asp395=
NM_001308258.1:c.1185_1187delinsCTG	NP_001295187.1:p.Asp395=
NM_032383.3:c.1680_1682delinsCTG	NP_115759.2:p.Asp560=
NM_032383.4:c.1680_1682delinsCTG	NP_115759.2:p.Asp560=
XM_005247834.3:c.1680_1682delinsCTG	XP_005247891.1:p.Asp560=
XM_006713788.1:c.1680_1682delinsCTG	XP_006713851.1:p.Asp560=
XR_924201.1:n.1795_1797delinsCTG
XM_005247834.4:c.1680_1682delinsCTG	XP_005247891.1:p.Asp560=
XM_017007323.2:c.1680_1682delinsCTG	XP_016862812.1:p.Asp560=
XR_001740326.2:n.1780_1782delinsCTG
XR_001740327.2:n.1780_1782delinsCTG
XR_001740328.2:n.1780_1782delinsCTG
XR_924201.3:n.1780_1782delinsCTG
NM_001308258.2:c.1185_1187delinsCTG	NP_001295187.1:p.Asp395=
NM_032383.5:c.1680_1682delinsCTG MANE Select	NP_115759.2:p.Asp560=