Canonical Allele Identifier: CA916084333

Gene: HPS5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18285367_18285368dup , CM000673.2:g.18285367_18285368dup	GRCh38
NC_000011.9:g.18306914_18306915dup , CM000673.1:g.18306914_18306915dup	GRCh37
NC_000011.8:g.18263490_18263491dup	NCBI36
NG_008877.1:g.41808_41809dup , LRG_586:g.41808_41809dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349215.8:c.2930_2931dup MANE Select	ENSP00000265967.5:p.Asp978GlnfsTer14
ENST00000349215.7:c.2930_2931dup	ENSP00000265967.5:p.Asp978GlnfsTer14
ENST00000352460.7:n.1228+1224_1228+1225dup
ENST00000396253.7:c.2588_2589dup	ENSP00000379552.3:p.Asp864GlnfsTer14
ENST00000438420.6:c.2588_2589dup	ENSP00000399590.2:p.Asp864GlnfsTer14
ENST00000537258.1:c.251_252dup	ENSP00000437437.1:p.Asp85GlnfsTer14
ENST00000545561.1:n.991_992dup
NM_007216.3:c.2588_2589dup	NP_009147.3:p.Asp864GlnfsTer14
NM_181507.1:c.2930_2931dup , LRG_586t1:c.2930_2931dup	NP_852608.1:p.Asp978GlnfsTer14
NM_181508.1:c.2588_2589dup	NP_852609.1:p.Asp864GlnfsTer14
XM_011519862.1:c.2930_2931dup	XP_011518164.1:p.Asp978GlnfsTer14
XM_011519863.1:c.2930_2931dup	XP_011518165.1:p.Asp978GlnfsTer14
XM_011519864.1:c.2930_2931dup	XP_011518166.1:p.Asp978GlnfsTer14
XM_011519865.1:c.2819_2820dup	XP_011518167.1:p.Asp941GlnfsTer14
XM_011519866.1:c.2588_2589dup	XP_011518168.1:p.Asp864GlnfsTer14
XM_011519867.1:c.2588_2589dup	XP_011518169.1:p.Asp864GlnfsTer14
XM_011519868.1:c.2588_2589dup	XP_011518170.1:p.Asp864GlnfsTer14
XM_011519869.1:c.2930_2931dup	XP_011518171.1:p.Asp978GlnfsTer?
XM_011519868.3:c.2588_2589dup	XP_011518170.1:p.Asp864GlnfsTer14
XM_017017149.1:c.2930_2931dup	XP_016872638.1:p.Asp978GlnfsTer14
XM_017017150.1:c.2930_2931dup	XP_016872639.1:p.Asp978GlnfsTer14
XM_017017151.2:c.2819_2820dup	XP_016872640.1:p.Asp941GlnfsTer14
XM_017017152.1:c.2819_2820dup	XP_016872641.1:p.Asp941GlnfsTer14
XM_017017153.2:c.2819_2820dup	XP_016872642.1:p.Asp941GlnfsTer14
XM_017017154.1:c.2588_2589dup	XP_016872643.1:p.Asp864GlnfsTer14
XR_001747750.1:n.3199_3200dup
XR_001747751.1:n.3199_3200dup
XR_001747752.1:n.2955_2956dup
XR_001747753.1:n.3072_3073dup
XR_001747754.2:n.2596_2597dup
XR_001747755.2:n.2518_2519dup
XR_001747756.2:n.2531_2532dup
NM_007216.4:c.2588_2589dup	NP_009147.3:p.Asp864GlnfsTer14
NM_181507.2:c.2930_2931dup MANE Select	NP_852608.1:p.Asp978GlnfsTer14