Canonical Allele Identifier: CA900469756

Gene: HPS3

Linked Data

• dbSNP Id: rs1475886956
• gnomAD v2: 3-148863448-GTT-G
• gnomAD v3: 3-149145661-GTT-G
• gnomAD v4: 3-149145661-GTT-G
• MyVariant Identifiers: chr3:g.148863449_148863450del (hg19) ; chr3:g.149145662_149145663del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149145662_149145663del , CM000665.2:g.149145662_149145663del	GRCh38
NC_000003.11:g.148863449_148863450del , CM000665.1:g.148863449_148863450del	GRCh37
NC_000003.10:g.150346139_150346140del	NCBI36
NG_009847.1:g.21079_21080del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.1163+116_1163+117del MANE Select	ENSP00000296051.2:n.1163+116_1163+117del
ENST00000296051.6:c.1163+116_1163+117del	ENSP00000296051.2:n.1163+116_1163+117del
ENST00000460120.5:c.668+116_668+117del	ENSP00000418230.1:n.668+116_668+117del
ENST00000462030.5:n.1762+116_1762+117del
ENST00000486530.1:n.1196+116_1196+117del
NM_001308258.1:c.668+116_668+117del	NP_001295187.1:n.668+116_668+117del
NM_032383.3:c.1163+116_1163+117del	NP_115759.2:n.1163+116_1163+117del
NM_032383.4:c.1163+116_1163+117del	NP_115759.2:n.1163+116_1163+117del
XM_005247834.3:c.1163+116_1163+117del	XP_005247891.1:n.1163+116_1163+117del
XM_006713788.1:c.1163+116_1163+117del	XP_006713851.1:n.1163+116_1163+117del
XR_924201.1:n.1278+116_1278+117del
XM_005247834.4:c.1163+116_1163+117del	XP_005247891.1:n.1163+116_1163+117del
XM_017007323.2:c.1163+116_1163+117del	XP_016862812.1:n.1163+116_1163+117del
XR_001740326.2:n.1263+116_1263+117del
XR_001740327.2:n.1263+116_1263+117del
XR_001740328.2:n.1263+116_1263+117del
XR_924201.3:n.1263+116_1263+117del
NM_001308258.2:c.668+116_668+117del	NP_001295187.1:n.668+116_668+117del
NM_032383.5:c.1163+116_1163+117del MANE Select	NP_115759.2:n.1163+116_1163+117del