Canonical Allele Identifier: CA1410093906

Gene: HPS3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149145584_149145586delinsTTA , CM000665.2:g.149145584_149145586delinsTTA	GRCh38
NC_000003.11:g.148863371_148863373delinsTTA , CM000665.1:g.148863371_148863373delinsTTA	GRCh37
NC_000003.10:g.150346061_150346063delinsTTA	NCBI36
NG_009847.1:g.21001_21003delinsTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.1163+38_1163+40delinsTTA MANE Select	ENSP00000296051.2:n.1163+38_1163+40delinsTTA
ENST00000296051.6:c.1163+38_1163+40delinsTTA	ENSP00000296051.2:n.1163+38_1163+40delinsTTA
ENST00000460120.5:c.668+38_668+40delinsTTA	ENSP00000418230.1:n.668+38_668+40delinsTTA
ENST00000462030.5:n.1762+38_1762+40delinsTTA
ENST00000486530.1:n.1196+38_1196+40delinsTTA
NM_001308258.1:c.668+38_668+40delinsTTA	NP_001295187.1:n.668+38_668+40delinsTTA
NM_032383.3:c.1163+38_1163+40delinsTTA	NP_115759.2:n.1163+38_1163+40delinsTTA
NM_032383.4:c.1163+38_1163+40delinsTTA	NP_115759.2:n.1163+38_1163+40delinsTTA
XM_005247834.3:c.1163+38_1163+40delinsTTA	XP_005247891.1:n.1163+38_1163+40delinsTTA
XM_006713788.1:c.1163+38_1163+40delinsTTA	XP_006713851.1:n.1163+38_1163+40delinsTTA
XR_924201.1:n.1278+38_1278+40delinsTTA
XM_005247834.4:c.1163+38_1163+40delinsTTA	XP_005247891.1:n.1163+38_1163+40delinsTTA
XM_017007323.2:c.1163+38_1163+40delinsTTA	XP_016862812.1:n.1163+38_1163+40delinsTTA
XR_001740326.2:n.1263+38_1263+40delinsTTA
XR_001740327.2:n.1263+38_1263+40delinsTTA
XR_001740328.2:n.1263+38_1263+40delinsTTA
XR_924201.3:n.1263+38_1263+40delinsTTA
NM_001308258.2:c.668+38_668+40delinsTTA	NP_001295187.1:n.668+38_668+40delinsTTA
NM_032383.5:c.1163+38_1163+40delinsTTA MANE Select	NP_115759.2:n.1163+38_1163+40delinsTTA