Canonical Allele Identifier: CA1410093938

Gene: HPS3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149145661_149145663delinsGTT , CM000665.2:g.149145661_149145663delinsGTT	GRCh38
NC_000003.11:g.148863448_148863450delinsGTT , CM000665.1:g.148863448_148863450delinsGTT	GRCh37
NC_000003.10:g.150346138_150346140delinsGTT	NCBI36
NG_009847.1:g.21078_21080delinsGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.1163+115_1163+117delinsGTT MANE Select	ENSP00000296051.2:n.1163+115_1163+117delinsGTT
ENST00000296051.6:c.1163+115_1163+117delinsGTT	ENSP00000296051.2:n.1163+115_1163+117delinsGTT
ENST00000460120.5:c.668+115_668+117delinsGTT	ENSP00000418230.1:n.668+115_668+117delinsGTT
ENST00000462030.5:n.1762+115_1762+117delinsGTT
ENST00000486530.1:n.1196+115_1196+117delinsGTT
NM_001308258.1:c.668+115_668+117delinsGTT	NP_001295187.1:n.668+115_668+117delinsGTT
NM_032383.3:c.1163+115_1163+117delinsGTT	NP_115759.2:n.1163+115_1163+117delinsGTT
NM_032383.4:c.1163+115_1163+117delinsGTT	NP_115759.2:n.1163+115_1163+117delinsGTT
XM_005247834.3:c.1163+115_1163+117delinsGTT	XP_005247891.1:n.1163+115_1163+117delinsGTT
XM_006713788.1:c.1163+115_1163+117delinsGTT	XP_006713851.1:n.1163+115_1163+117delinsGTT
XR_924201.1:n.1278+115_1278+117delinsGTT
XM_005247834.4:c.1163+115_1163+117delinsGTT	XP_005247891.1:n.1163+115_1163+117delinsGTT
XM_017007323.2:c.1163+115_1163+117delinsGTT	XP_016862812.1:n.1163+115_1163+117delinsGTT
XR_001740326.2:n.1263+115_1263+117delinsGTT
XR_001740327.2:n.1263+115_1263+117delinsGTT
XR_001740328.2:n.1263+115_1263+117delinsGTT
XR_924201.3:n.1263+115_1263+117delinsGTT
NM_001308258.2:c.668+115_668+117delinsGTT	NP_001295187.1:n.668+115_668+117delinsGTT
NM_032383.5:c.1163+115_1163+117delinsGTT MANE Select	NP_115759.2:n.1163+115_1163+117delinsGTT