Canonical Allele Identifier: CA1410093950

Gene: HPS3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149145684_149145686delinsCTT , CM000665.2:g.149145684_149145686delinsCTT	GRCh38
NC_000003.11:g.148863471_148863473delinsCTT , CM000665.1:g.148863471_148863473delinsCTT	GRCh37
NC_000003.10:g.150346161_150346163delinsCTT	NCBI36
NG_009847.1:g.21101_21103delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.1163+138_1163+140delinsCTT MANE Select	ENSP00000296051.2:n.1163+138_1163+140delinsCTT
ENST00000296051.6:c.1163+138_1163+140delinsCTT	ENSP00000296051.2:n.1163+138_1163+140delinsCTT
ENST00000460120.5:c.668+138_668+140delinsCTT	ENSP00000418230.1:n.668+138_668+140delinsCTT
ENST00000462030.5:n.1762+138_1762+140delinsCTT
ENST00000486530.1:n.1196+138_1196+140delinsCTT
NM_001308258.1:c.668+138_668+140delinsCTT	NP_001295187.1:n.668+138_668+140delinsCTT
NM_032383.3:c.1163+138_1163+140delinsCTT	NP_115759.2:n.1163+138_1163+140delinsCTT
NM_032383.4:c.1163+138_1163+140delinsCTT	NP_115759.2:n.1163+138_1163+140delinsCTT
XM_005247834.3:c.1163+138_1163+140delinsCTT	XP_005247891.1:n.1163+138_1163+140delinsCTT
XM_006713788.1:c.1163+138_1163+140delinsCTT	XP_006713851.1:n.1163+138_1163+140delinsCTT
XR_924201.1:n.1278+138_1278+140delinsCTT
XM_005247834.4:c.1163+138_1163+140delinsCTT	XP_005247891.1:n.1163+138_1163+140delinsCTT
XM_017007323.2:c.1163+138_1163+140delinsCTT	XP_016862812.1:n.1163+138_1163+140delinsCTT
XR_001740326.2:n.1263+138_1263+140delinsCTT
XR_001740327.2:n.1263+138_1263+140delinsCTT
XR_001740328.2:n.1263+138_1263+140delinsCTT
XR_924201.3:n.1263+138_1263+140delinsCTT
NM_001308258.2:c.668+138_668+140delinsCTT	NP_001295187.1:n.668+138_668+140delinsCTT
NM_032383.5:c.1163+138_1163+140delinsCTT MANE Select	NP_115759.2:n.1163+138_1163+140delinsCTT