Canonical Allele Identifier: CA2833908500

Gene: HPS3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149145788_149145789del , CM000665.2:g.149145788_149145789del	GRCh38
NC_000003.11:g.148863575_148863576del , CM000665.1:g.148863575_148863576del	GRCh37
NC_000003.10:g.150346265_150346266del	NCBI36
NG_009847.1:g.21205_21206del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.1163+242_1163+243del MANE Select	ENSP00000296051.2:n.1163+242_1163+243del
ENST00000296051.6:c.1163+242_1163+243del	ENSP00000296051.2:n.1163+242_1163+243del
ENST00000460120.5:c.668+242_668+243del	ENSP00000418230.1:n.668+242_668+243del
ENST00000462030.5:n.1762+242_1762+243del
ENST00000486530.1:n.1196+242_1196+243del
NM_001308258.1:c.668+242_668+243del	NP_001295187.1:n.668+242_668+243del
NM_032383.3:c.1163+242_1163+243del	NP_115759.2:n.1163+242_1163+243del
NM_032383.4:c.1163+242_1163+243del	NP_115759.2:n.1163+242_1163+243del
XM_005247834.3:c.1163+242_1163+243del	XP_005247891.1:n.1163+242_1163+243del
XM_006713788.1:c.1163+242_1163+243del	XP_006713851.1:n.1163+242_1163+243del
XR_924201.1:n.1278+242_1278+243del
XM_005247834.4:c.1163+242_1163+243del	XP_005247891.1:n.1163+242_1163+243del
XM_017007323.2:c.1163+242_1163+243del	XP_016862812.1:n.1163+242_1163+243del
XR_001740326.2:n.1263+242_1263+243del
XR_001740327.2:n.1263+242_1263+243del
XR_001740328.2:n.1263+242_1263+243del
XR_924201.3:n.1263+242_1263+243del
NM_001308258.2:c.668+242_668+243del	NP_001295187.1:n.668+242_668+243del
NM_032383.5:c.1163+242_1163+243del MANE Select	NP_115759.2:n.1163+242_1163+243del