Canonical Allele Identifier: CA1955516210

Gene: HPS5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18287504_18287506delinsGGA , CM000673.2:g.18287504_18287506delinsGGA	GRCh38
NC_000011.9:g.18309051_18309053delinsGGA , CM000673.1:g.18309051_18309053delinsGGA	GRCh37
NC_000011.8:g.18265627_18265629delinsGGA	NCBI36
NG_008877.1:g.39669_39671delinsTCC , LRG_586:g.39669_39671delinsTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349215.8:c.2717+29_2717+31delinsTCC MANE Select	ENSP00000265967.5:n.2717+29_2717+31delinsTCC
ENST00000349215.7:c.2717+29_2717+31delinsTCC	ENSP00000265967.5:n.2717+29_2717+31delinsTCC
ENST00000352460.7:n.1108+29_1108+31delinsTCC
ENST00000396253.7:c.2375+29_2375+31delinsTCC	ENSP00000379552.3:n.2375+29_2375+31delinsTCC
ENST00000438420.6:c.2375+29_2375+31delinsTCC	ENSP00000399590.2:n.2375+29_2375+31delinsTCC
ENST00000544218.5:c.275+29_275+31delinsTCC	ENSP00000441781.1:n.275+29_275+31delinsTCC
ENST00000545561.1:n.778+29_778+31delinsTCC
NM_007216.3:c.2375+29_2375+31delinsTCC	NP_009147.3:n.2375+29_2375+31delinsTCC
NM_181507.1:c.2717+29_2717+31delinsTCC , LRG_586t1:c.2717+29_2717+31delinsTCC	NP_852608.1:n.2717+29_2717+31delinsTCC
NM_181508.1:c.2375+29_2375+31delinsTCC	NP_852609.1:n.2375+29_2375+31delinsTCC
XM_011519862.1:c.2717+29_2717+31delinsTCC	XP_011518164.1:n.2717+29_2717+31delinsTCC
XM_011519863.1:c.2717+29_2717+31delinsTCC	XP_011518165.1:n.2717+29_2717+31delinsTCC
XM_011519864.1:c.2717+29_2717+31delinsTCC	XP_011518166.1:n.2717+29_2717+31delinsTCC
XM_011519865.1:c.2606+29_2606+31delinsTCC	XP_011518167.1:n.2606+29_2606+31delinsTCC
XM_011519866.1:c.2375+29_2375+31delinsTCC	XP_011518168.1:n.2375+29_2375+31delinsTCC
XM_011519867.1:c.2375+29_2375+31delinsTCC	XP_011518169.1:n.2375+29_2375+31delinsTCC
XM_011519868.1:c.2375+29_2375+31delinsTCC	XP_011518170.1:n.2375+29_2375+31delinsTCC
XM_011519869.1:c.2717+29_2717+31delinsTCC	XP_011518171.1:n.2717+29_2717+31delinsTCC
XM_011519868.3:c.2375+29_2375+31delinsTCC	XP_011518170.1:n.2375+29_2375+31delinsTCC
XM_017017149.1:c.2717+29_2717+31delinsTCC	XP_016872638.1:n.2717+29_2717+31delinsTCC
XM_017017150.1:c.2717+29_2717+31delinsTCC	XP_016872639.1:n.2717+29_2717+31delinsTCC
XM_017017151.2:c.2606+29_2606+31delinsTCC	XP_016872640.1:n.2606+29_2606+31delinsTCC
XM_017017152.1:c.2606+29_2606+31delinsTCC	XP_016872641.1:n.2606+29_2606+31delinsTCC
XM_017017153.2:c.2606+29_2606+31delinsTCC	XP_016872642.1:n.2606+29_2606+31delinsTCC
XM_017017154.1:c.2375+29_2375+31delinsTCC	XP_016872643.1:n.2375+29_2375+31delinsTCC
XR_001747750.1:n.2986+29_2986+31delinsTCC
XR_001747751.1:n.2986+29_2986+31delinsTCC
XR_001747752.1:n.2742+29_2742+31delinsTCC
XR_001747753.1:n.2859+29_2859+31delinsTCC
XR_001747754.2:n.2383+29_2383+31delinsTCC
XR_001747755.2:n.2305+29_2305+31delinsTCC
XR_001747756.2:n.2318+29_2318+31delinsTCC
NM_007216.4:c.2375+29_2375+31delinsTCC	NP_009147.3:n.2375+29_2375+31delinsTCC
NM_181507.2:c.2717+29_2717+31delinsTCC MANE Select	NP_852608.1:n.2717+29_2717+31delinsTCC