Canonical Allele Identifier: CA1955516215

Gene: HPS5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18287509_18287511delinsGTC , CM000673.2:g.18287509_18287511delinsGTC	GRCh38
NC_000011.9:g.18309056_18309058delinsGTC , CM000673.1:g.18309056_18309058delinsGTC	GRCh37
NC_000011.8:g.18265632_18265634delinsGTC	NCBI36
NG_008877.1:g.39664_39666delinsGAC , LRG_586:g.39664_39666delinsGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349215.8:c.2717+24_2717+26delinsGAC MANE Select	ENSP00000265967.5:n.2717+24_2717+26delinsGAC
ENST00000349215.7:c.2717+24_2717+26delinsGAC	ENSP00000265967.5:n.2717+24_2717+26delinsGAC
ENST00000352460.7:n.1108+24_1108+26delinsGAC
ENST00000396253.7:c.2375+24_2375+26delinsGAC	ENSP00000379552.3:n.2375+24_2375+26delinsGAC
ENST00000438420.6:c.2375+24_2375+26delinsGAC	ENSP00000399590.2:n.2375+24_2375+26delinsGAC
ENST00000544218.5:c.275+24_275+26delinsGAC	ENSP00000441781.1:n.275+24_275+26delinsGAC
ENST00000545561.1:n.778+24_778+26delinsGAC
NM_007216.3:c.2375+24_2375+26delinsGAC	NP_009147.3:n.2375+24_2375+26delinsGAC
NM_181507.1:c.2717+24_2717+26delinsGAC , LRG_586t1:c.2717+24_2717+26delinsGAC	NP_852608.1:n.2717+24_2717+26delinsGAC
NM_181508.1:c.2375+24_2375+26delinsGAC	NP_852609.1:n.2375+24_2375+26delinsGAC
XM_011519862.1:c.2717+24_2717+26delinsGAC	XP_011518164.1:n.2717+24_2717+26delinsGAC
XM_011519863.1:c.2717+24_2717+26delinsGAC	XP_011518165.1:n.2717+24_2717+26delinsGAC
XM_011519864.1:c.2717+24_2717+26delinsGAC	XP_011518166.1:n.2717+24_2717+26delinsGAC
XM_011519865.1:c.2606+24_2606+26delinsGAC	XP_011518167.1:n.2606+24_2606+26delinsGAC
XM_011519866.1:c.2375+24_2375+26delinsGAC	XP_011518168.1:n.2375+24_2375+26delinsGAC
XM_011519867.1:c.2375+24_2375+26delinsGAC	XP_011518169.1:n.2375+24_2375+26delinsGAC
XM_011519868.1:c.2375+24_2375+26delinsGAC	XP_011518170.1:n.2375+24_2375+26delinsGAC
XM_011519869.1:c.2717+24_2717+26delinsGAC	XP_011518171.1:n.2717+24_2717+26delinsGAC
XM_011519868.3:c.2375+24_2375+26delinsGAC	XP_011518170.1:n.2375+24_2375+26delinsGAC
XM_017017149.1:c.2717+24_2717+26delinsGAC	XP_016872638.1:n.2717+24_2717+26delinsGAC
XM_017017150.1:c.2717+24_2717+26delinsGAC	XP_016872639.1:n.2717+24_2717+26delinsGAC
XM_017017151.2:c.2606+24_2606+26delinsGAC	XP_016872640.1:n.2606+24_2606+26delinsGAC
XM_017017152.1:c.2606+24_2606+26delinsGAC	XP_016872641.1:n.2606+24_2606+26delinsGAC
XM_017017153.2:c.2606+24_2606+26delinsGAC	XP_016872642.1:n.2606+24_2606+26delinsGAC
XM_017017154.1:c.2375+24_2375+26delinsGAC	XP_016872643.1:n.2375+24_2375+26delinsGAC
XR_001747750.1:n.2986+24_2986+26delinsGAC
XR_001747751.1:n.2986+24_2986+26delinsGAC
XR_001747752.1:n.2742+24_2742+26delinsGAC
XR_001747753.1:n.2859+24_2859+26delinsGAC
XR_001747754.2:n.2383+24_2383+26delinsGAC
XR_001747755.2:n.2305+24_2305+26delinsGAC
XR_001747756.2:n.2318+24_2318+26delinsGAC
NM_007216.4:c.2375+24_2375+26delinsGAC	NP_009147.3:n.2375+24_2375+26delinsGAC
NM_181507.2:c.2717+24_2717+26delinsGAC MANE Select	NP_852608.1:n.2717+24_2717+26delinsGAC