Canonical Allele Identifier: CA1410093973

Gene: HPS3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149145740_149145744delinsCTTTG , CM000665.2:g.149145740_149145744delinsCTTTG	GRCh38
NC_000003.11:g.148863527_148863531delinsCTTTG , CM000665.1:g.148863527_148863531delinsCTTTG	GRCh37
NC_000003.10:g.150346217_150346221delinsCTTTG	NCBI36
NG_009847.1:g.21157_21161delinsCTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.1163+194_1163+198delinsCTTTG MANE Select	ENSP00000296051.2:n.1163+194_1163+198delinsCTTTG
ENST00000296051.6:c.1163+194_1163+198delinsCTTTG	ENSP00000296051.2:n.1163+194_1163+198delinsCTTTG
ENST00000460120.5:c.668+194_668+198delinsCTTTG	ENSP00000418230.1:n.668+194_668+198delinsCTTTG
ENST00000462030.5:n.1762+194_1762+198delinsCTTTG
ENST00000486530.1:n.1196+194_1196+198delinsCTTTG
NM_001308258.1:c.668+194_668+198delinsCTTTG	NP_001295187.1:n.668+194_668+198delinsCTTTG
NM_032383.3:c.1163+194_1163+198delinsCTTTG	NP_115759.2:n.1163+194_1163+198delinsCTTTG
NM_032383.4:c.1163+194_1163+198delinsCTTTG	NP_115759.2:n.1163+194_1163+198delinsCTTTG
XM_005247834.3:c.1163+194_1163+198delinsCTTTG	XP_005247891.1:n.1163+194_1163+198delinsCTTTG
XM_006713788.1:c.1163+194_1163+198delinsCTTTG	XP_006713851.1:n.1163+194_1163+198delinsCTTTG
XR_924201.1:n.1278+194_1278+198delinsCTTTG
XM_005247834.4:c.1163+194_1163+198delinsCTTTG	XP_005247891.1:n.1163+194_1163+198delinsCTTTG
XM_017007323.2:c.1163+194_1163+198delinsCTTTG	XP_016862812.1:n.1163+194_1163+198delinsCTTTG
XR_001740326.2:n.1263+194_1263+198delinsCTTTG
XR_001740327.2:n.1263+194_1263+198delinsCTTTG
XR_001740328.2:n.1263+194_1263+198delinsCTTTG
XR_924201.3:n.1263+194_1263+198delinsCTTTG
NM_001308258.2:c.668+194_668+198delinsCTTTG	NP_001295187.1:n.668+194_668+198delinsCTTTG
NM_032383.5:c.1163+194_1163+198delinsCTTTG MANE Select	NP_115759.2:n.1163+194_1163+198delinsCTTTG