Canonical Allele Identifier: CA436211060

Gene: HPS3 CP

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149172355_149172356del , CM000665.2:g.149172355_149172356del	GRCh38
NC_000003.11:g.148890142_148890143del , CM000665.1:g.148890142_148890143del	GRCh37
NC_000003.10:g.150372832_150372833del	NCBI36
NG_009847.1:g.47772_47773del
NG_011800.1:g.54726_54727del
NG_011800.2:g.54726_54727del
NG_011800.3:g.54726_54727del

Transcript Alleles

HGVS	Amino-acid Change
NM_032383.5:c.*133_*134del (HPS3) MANE Select	NP_115759.2:n.*133_*134del
ENST00000296051.7:c.*133_*134del (HPS3) MANE Select	ENSP00000296051.2:n.*133_*134del
NM_001308258.1:c.*133_*134del (HPS3)	NP_001295187.1:n.*133_*134del
NM_001308258.2:c.*133_*134del (HPS3)	NP_001295187.1:n.*133_*134del
NM_032383.3:c.*133_*134del (HPS3)	NP_115759.2:n.*133_*134del
NM_032383.4:c.*133_*134del (HPS3)	NP_115759.2:n.*133_*134del
NR_046371.1:n.3058+5520_3058+5521del (CP)
NR_046371.2:n.2842+5520_2842+5521del (CP)
ENST00000296051.6:c.*133_*134del (HPS3)	ENSP00000296051.2:n.*133_*134del
ENST00000460120.5:c.*133_*134del (HPS3)	ENSP00000418230.1:n.*133_*134del
ENST00000460822.1:c.1352_1353del (HPS3)	ENSP00000419824.1:n.1352_1353del
ENST00000479771.5:c.586+3930_586+3931del (CP)	ENSP00000420367.1:n.586+3930_586+3931del
ENST00000481169.5:c.2805+5520_2805+5521del (CP)	ENSP00000418773.1:n.2805+5520_2805+5521del
XM_006713499.2:c.3181+3930_3181+3931del (CP)	XP_006713562.1:n.3181+3930_3181+3931del
XM_006713499.3:c.3181+3930_3181+3931del (CP)	XP_006713562.1:n.3181+3930_3181+3931del
XM_011512435.1:c.3193+3918_3193+3919del (CP)	XP_011510737.1:n.3193+3918_3193+3919del
XM_011512435.2:c.3193+3918_3193+3919del (CP)	XP_011510737.1:n.3193+3918_3193+3919del
XR_001740326.2:n.3252_3253del (HPS3)
XR_001740328.2:n.3217_3218del (HPS3)
XR_427361.2:n.3276+5520_3276+5521del (CP)
XR_427361.3:n.3234+5520_3234+5521del (CP)