Canonical Allele Identifier: CA1410094000

Gene: HPS3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149145786_149145799delinsTAAGGTTCTTCATA , CM000665.2:g.149145786_149145799delinsTAAGGTTCTTCATA	GRCh38
NC_000003.11:g.148863573_148863586delinsTAAGGTTCTTCATA , CM000665.1:g.148863573_148863586delinsTAAGGTTCTTCATA	GRCh37
NC_000003.10:g.150346263_150346276delinsTAAGGTTCTTCATA	NCBI36
NG_009847.1:g.21203_21216delinsTAAGGTTCTTCATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.1163+240_1163+253delinsTAAGGTTCTTCATA MANE Select	ENSP00000296051.2:n.1163+240_1163+253delinsTAAGGTTCTTCATA
ENST00000296051.6:c.1163+240_1163+253delinsTAAGGTTCTTCATA	ENSP00000296051.2:n.1163+240_1163+253delinsTAAGGTTCTTCATA
ENST00000460120.5:c.668+240_668+253delinsTAAGGTTCTTCATA	ENSP00000418230.1:n.668+240_668+253delinsTAAGGTTCTTCATA
ENST00000462030.5:n.1762+240_1762+253delinsTAAGGTTCTTCATA
ENST00000486530.1:n.1196+240_1196+253delinsTAAGGTTCTTCATA
NM_001308258.1:c.668+240_668+253delinsTAAGGTTCTTCATA	NP_001295187.1:n.668+240_668+253delinsTAAGGTTCTTCATA
NM_032383.3:c.1163+240_1163+253delinsTAAGGTTCTTCATA	NP_115759.2:n.1163+240_1163+253delinsTAAGGTTCTTCATA
NM_032383.4:c.1163+240_1163+253delinsTAAGGTTCTTCATA	NP_115759.2:n.1163+240_1163+253delinsTAAGGTTCTTCATA
XM_005247834.3:c.1163+240_1163+253delinsTAAGGTTCTTCATA	XP_005247891.1:n.1163+240_1163+253delinsTAAGGTTCTTCATA
XM_006713788.1:c.1163+240_1163+253delinsTAAGGTTCTTCATA	XP_006713851.1:n.1163+240_1163+253delinsTAAGGTTCTTCATA
XR_924201.1:n.1278+240_1278+253delinsTAAGGTTCTTCATA
XM_005247834.4:c.1163+240_1163+253delinsTAAGGTTCTTCATA	XP_005247891.1:n.1163+240_1163+253delinsTAAGGTTCTTCATA
XM_017007323.2:c.1163+240_1163+253delinsTAAGGTTCTTCATA	XP_016862812.1:n.1163+240_1163+253delinsTAAGGTTCTTCATA
XR_001740326.2:n.1263+240_1263+253delinsTAAGGTTCTTCATA
XR_001740327.2:n.1263+240_1263+253delinsTAAGGTTCTTCATA
XR_001740328.2:n.1263+240_1263+253delinsTAAGGTTCTTCATA
XR_924201.3:n.1263+240_1263+253delinsTAAGGTTCTTCATA
NM_001308258.2:c.668+240_668+253delinsTAAGGTTCTTCATA	NP_001295187.1:n.668+240_668+253delinsTAAGGTTCTTCATA
NM_032383.5:c.1163+240_1163+253delinsTAAGGTTCTTCATA MANE Select	NP_115759.2:n.1163+240_1163+253delinsTAAGGTTCTTCATA