Canonical Allele Identifier: CA2979226548

Gene: HPS3 CP

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149167842_149167843del , CM000665.2:g.149167842_149167843del	GRCh38
NC_000003.11:g.148885629_148885630del , CM000665.1:g.148885629_148885630del	GRCh37
NC_000003.10:g.150368319_150368320del	NCBI36
NG_009847.1:g.43259_43260del
NG_011800.2:g.59204_59205del
NG_011800.3:g.59204_59205del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.2797-51_2797-50del (HPS3) MANE Select	ENSP00000296051.2:n.2797-51_2797-50del
ENST00000296051.6:c.2797-51_2797-50del (HPS3)	ENSP00000296051.2:n.2797-51_2797-50del
ENST00000460120.5:c.2302-51_2302-50del (HPS3)	ENSP00000418230.1:n.2302-51_2302-50del
ENST00000460822.1:c.894-47_894-46del (HPS3)	ENSP00000419824.1:n.894-47_894-46del
ENST00000478525.1:n.27-51_27-50del (HPS3)
ENST00000479771.5:c.587-1792_587-1791del (CP)	ENSP00000420367.1:n.587-1792_587-1791del
ENST00000481169.5:c.2806-1792_2806-1791del (CP)	ENSP00000418773.1:n.2806-1792_2806-1791del
NM_001308258.1:c.2302-51_2302-50del (HPS3)	NP_001295187.1:n.2302-51_2302-50del
NM_032383.3:c.2797-51_2797-50del (HPS3)	NP_115759.2:n.2797-51_2797-50del
NM_032383.4:c.2797-51_2797-50del (HPS3)	NP_115759.2:n.2797-51_2797-50del
NR_046371.1:n.3059-1792_3059-1791del (CP)
XM_006713499.2:c.3182-1792_3182-1791del (CP)	XP_006713562.1:n.3182-1792_3182-1791del
XM_006713788.1:c.2797-47_2797-46del (HPS3)	XP_006713851.1:n.2797-47_2797-46del
XM_011512435.1:c.3194-1792_3194-1791del (CP)	XP_011510737.1:n.3194-1792_3194-1791del
XR_427361.2:n.3277-1792_3277-1791del (CP)
XR_924201.1:n.2881-47_2881-46del (HPS3)
XM_006713499.3:c.3182-1792_3182-1791del (CP)	XP_006713562.1:n.3182-1792_3182-1791del
XM_011512435.2:c.3194-1792_3194-1791del (CP)	XP_011510737.1:n.3194-1792_3194-1791del
XM_017007323.2:c.2797-51_2797-50del (HPS3)	XP_016862812.1:n.2797-51_2797-50del
XR_001740326.2:n.2897-47_2897-46del (HPS3)
XR_001740327.2:n.2897-47_2897-46del (HPS3)
XR_001740328.2:n.2866-51_2866-50del (HPS3)
XR_427361.3:n.3235-1792_3235-1791del (CP)
XR_924201.3:n.2866-47_2866-46del (HPS3)
NM_001308258.2:c.2302-51_2302-50del (HPS3)	NP_001295187.1:n.2302-51_2302-50del
NM_032383.5:c.2797-51_2797-50del (HPS3) MANE Select	NP_115759.2:n.2797-51_2797-50del
NR_046371.2:n.2843-1792_2843-1791del (CP)