Canonical Allele Identifier: CA900469787

Gene: HPS3

Linked Data

• dbSNP Id: rs1326213270
• gnomAD v3: 3-149145786-TAAGGTTCTTCATA-T
• gnomAD v4: 3-149145786-TAAGGTTCTTCATA-T
• MyVariant Identifiers: chr3:g.148863574_148863586del (hg19) ; chr3:g.149145787_149145799del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149145791_149145803del , CM000665.2:g.149145791_149145803del	GRCh38
NC_000003.11:g.148863578_148863590del , CM000665.1:g.148863578_148863590del	GRCh37
NC_000003.10:g.150346268_150346280del	NCBI36
NG_009847.1:g.21208_21220del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.1163+245_1163+257del MANE Select	ENSP00000296051.2:n.1163+245_1163+257del
ENST00000296051.6:c.1163+245_1163+257del	ENSP00000296051.2:n.1163+245_1163+257del
ENST00000460120.5:c.668+245_668+257del	ENSP00000418230.1:n.668+245_668+257del
ENST00000462030.5:n.1762+245_1762+257del
ENST00000486530.1:n.1196+245_1196+257del
NM_001308258.1:c.668+245_668+257del	NP_001295187.1:n.668+245_668+257del
NM_032383.3:c.1163+245_1163+257del	NP_115759.2:n.1163+245_1163+257del
NM_032383.4:c.1163+245_1163+257del	NP_115759.2:n.1163+245_1163+257del
XM_005247834.3:c.1163+245_1163+257del	XP_005247891.1:n.1163+245_1163+257del
XM_006713788.1:c.1163+245_1163+257del	XP_006713851.1:n.1163+245_1163+257del
XR_924201.1:n.1278+245_1278+257del
XM_005247834.4:c.1163+245_1163+257del	XP_005247891.1:n.1163+245_1163+257del
XM_017007323.2:c.1163+245_1163+257del	XP_016862812.1:n.1163+245_1163+257del
XR_001740326.2:n.1263+245_1263+257del
XR_001740327.2:n.1263+245_1263+257del
XR_001740328.2:n.1263+245_1263+257del
XR_924201.3:n.1263+245_1263+257del
NM_001308258.2:c.668+245_668+257del	NP_001295187.1:n.668+245_668+257del
NM_032383.5:c.1163+245_1163+257del MANE Select	NP_115759.2:n.1163+245_1163+257del