Canonical Allele Identifier: CA1955516248

Gene: HPS5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18287592_18287595delinsGGAT , CM000673.2:g.18287592_18287595delinsGGAT	GRCh38
NC_000011.9:g.18309139_18309142delinsGGAT , CM000673.1:g.18309139_18309142delinsGGAT	GRCh37
NC_000011.8:g.18265715_18265718delinsGGAT	NCBI36
NG_008877.1:g.39580_39583delinsATCC , LRG_586:g.39580_39583delinsATCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349215.8:c.2657_2660delinsATCC MANE Select	ENSP00000265967.5:p.His886=
ENST00000349215.7:c.2657_2660delinsATCC	ENSP00000265967.5:p.His886=
ENST00000352460.7:n.1048_1051delinsATCC
ENST00000396253.7:c.2315_2318delinsATCC	ENSP00000379552.3:p.His772=
ENST00000438420.6:c.2315_2318delinsATCC	ENSP00000399590.2:p.His772=
ENST00000544218.5:c.215_218delinsATCC	ENSP00000441781.1:p.His72=
ENST00000545561.1:n.718_721delinsATCC
NM_007216.3:c.2315_2318delinsATCC	NP_009147.3:p.His772=
NM_181507.1:c.2657_2660delinsATCC , LRG_586t1:c.2657_2660delinsATCC	NP_852608.1:p.His886=
NM_181508.1:c.2315_2318delinsATCC	NP_852609.1:p.His772=
XM_011519862.1:c.2657_2660delinsATCC	XP_011518164.1:p.His886=
XM_011519863.1:c.2657_2660delinsATCC	XP_011518165.1:p.His886=
XM_011519864.1:c.2657_2660delinsATCC	XP_011518166.1:p.His886=
XM_011519865.1:c.2546_2549delinsATCC	XP_011518167.1:p.His849=
XM_011519866.1:c.2315_2318delinsATCC	XP_011518168.1:p.His772=
XM_011519867.1:c.2315_2318delinsATCC	XP_011518169.1:p.His772=
XM_011519868.1:c.2315_2318delinsATCC	XP_011518170.1:p.His772=
XM_011519869.1:c.2657_2660delinsATCC	XP_011518171.1:p.His886=
XM_011519870.1:c.*141_*144delinsATCC	XP_011518172.1:n.*141_*144delinsATCC
XM_011519871.1:c.*141_*144delinsATCC	XP_011518173.1:n.*141_*144delinsATCC
XM_011519868.3:c.2315_2318delinsATCC	XP_011518170.1:p.His772=
XM_017017149.1:c.2657_2660delinsATCC	XP_016872638.1:p.His886=
XM_017017150.1:c.2657_2660delinsATCC	XP_016872639.1:p.His886=
XM_017017151.2:c.2546_2549delinsATCC	XP_016872640.1:p.His849=
XM_017017152.1:c.2546_2549delinsATCC	XP_016872641.1:p.His849=
XM_017017153.2:c.2546_2549delinsATCC	XP_016872642.1:p.His849=
XM_017017154.1:c.2315_2318delinsATCC	XP_016872643.1:p.His772=
XR_001747750.1:n.2926_2929delinsATCC
XR_001747751.1:n.2926_2929delinsATCC
XR_001747752.1:n.2682_2685delinsATCC
XR_001747753.1:n.2799_2802delinsATCC
XR_001747754.2:n.2323_2326delinsATCC
XR_001747755.2:n.2245_2248delinsATCC
XR_001747756.2:n.2258_2261delinsATCC
NM_007216.4:c.2315_2318delinsATCC	NP_009147.3:p.His772=
NM_181507.2:c.2657_2660delinsATCC MANE Select	NP_852608.1:p.His886=