Canonical Allele Identifier: CA10615062

Gene: HPS3 CP

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149172353_149172356dup , CM000665.2:g.149172353_149172356dup	GRCh38
NC_000003.11:g.148890140_148890143dup , CM000665.1:g.148890140_148890143dup	GRCh37
NC_000003.10:g.150372830_150372833dup	NCBI36
NG_009847.1:g.47770_47773dup
NG_011800.1:g.54724_54727dup
NG_011800.2:g.54724_54727dup
NG_011800.3:g.54724_54727dup

Transcript Alleles

HGVS	Amino-acid Change
NM_032383.5:c.*131_*134dup (HPS3) MANE Select	NP_115759.2:n.*131_*134dup
ENST00000296051.7:c.*131_*134dup (HPS3) MANE Select	ENSP00000296051.2:n.*131_*134dup
NM_001308258.1:c.*131_*134dup (HPS3)	NP_001295187.1:n.*131_*134dup
NM_001308258.2:c.*131_*134dup (HPS3)	NP_001295187.1:n.*131_*134dup
NM_032383.3:c.*131_*134dup (HPS3)	NP_115759.2:n.*131_*134dup
NM_032383.4:c.*131_*134dup (HPS3)	NP_115759.2:n.*131_*134dup
NR_046371.1:n.3058+5518_3058+5521dup (CP)
NR_046371.2:n.2842+5518_2842+5521dup (CP)
ENST00000296051.6:c.*131_*134dup (HPS3)	ENSP00000296051.2:n.*131_*134dup
ENST00000460120.5:c.*131_*134dup (HPS3)	ENSP00000418230.1:n.*131_*134dup
ENST00000460822.1:c.1350_1353dup (HPS3)	ENSP00000419824.1:n.1350_1353dup
ENST00000479771.5:c.586+3928_586+3931dup (CP)	ENSP00000420367.1:n.586+3928_586+3931dup
ENST00000481169.5:c.2805+5518_2805+5521dup (CP)	ENSP00000418773.1:n.2805+5518_2805+5521dup
XM_006713499.2:c.3181+3928_3181+3931dup (CP)	XP_006713562.1:n.3181+3928_3181+3931dup
XM_006713499.3:c.3181+3928_3181+3931dup (CP)	XP_006713562.1:n.3181+3928_3181+3931dup
XM_011512435.1:c.3193+3916_3193+3919dup (CP)	XP_011510737.1:n.3193+3916_3193+3919dup
XM_011512435.2:c.3193+3916_3193+3919dup (CP)	XP_011510737.1:n.3193+3916_3193+3919dup
XR_001740326.2:n.3250_3253dup (HPS3)
XR_001740328.2:n.3215_3218dup (HPS3)
XR_427361.2:n.3276+5518_3276+5521dup (CP)
XR_427361.3:n.3234+5518_3234+5521dup (CP)