Canonical Allele Identifier: CA546936910

Gene: HPS3

Linked Data

• dbSNP Id: rs1338681574
• gnomAD v2: 3-148863471-CTT-C
• gnomAD v3: 3-149145684-CTT-C
• gnomAD v4: 3-149145684-CTT-C
• MyVariant Identifiers: chr3:g.148863472_148863473del (hg19) ; chr3:g.149145685_149145686del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149145687_149145688del , CM000665.2:g.149145687_149145688del	GRCh38
NC_000003.11:g.148863474_148863475del , CM000665.1:g.148863474_148863475del	GRCh37
NC_000003.10:g.150346164_150346165del	NCBI36
NG_009847.1:g.21104_21105del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.1163+141_1163+142del MANE Select	ENSP00000296051.2:n.1163+141_1163+142del
ENST00000296051.6:c.1163+141_1163+142del	ENSP00000296051.2:n.1163+141_1163+142del
ENST00000460120.5:c.668+141_668+142del	ENSP00000418230.1:n.668+141_668+142del
ENST00000462030.5:n.1762+141_1762+142del
ENST00000486530.1:n.1196+141_1196+142del
NM_001308258.1:c.668+141_668+142del	NP_001295187.1:n.668+141_668+142del
NM_032383.3:c.1163+141_1163+142del	NP_115759.2:n.1163+141_1163+142del
NM_032383.4:c.1163+141_1163+142del	NP_115759.2:n.1163+141_1163+142del
XM_005247834.3:c.1163+141_1163+142del	XP_005247891.1:n.1163+141_1163+142del
XM_006713788.1:c.1163+141_1163+142del	XP_006713851.1:n.1163+141_1163+142del
XR_924201.1:n.1278+141_1278+142del
XM_005247834.4:c.1163+141_1163+142del	XP_005247891.1:n.1163+141_1163+142del
XM_017007323.2:c.1163+141_1163+142del	XP_016862812.1:n.1163+141_1163+142del
XR_001740326.2:n.1263+141_1263+142del
XR_001740327.2:n.1263+141_1263+142del
XR_001740328.2:n.1263+141_1263+142del
XR_924201.3:n.1263+141_1263+142del
NM_001308258.2:c.668+141_668+142del	NP_001295187.1:n.668+141_668+142del
NM_032383.5:c.1163+141_1163+142del MANE Select	NP_115759.2:n.1163+141_1163+142del