Canonical Allele Identifier: CA1955516199

Gene: HPS5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18287476_18287478delinsAAG , CM000673.2:g.18287476_18287478delinsAAG	GRCh38
NC_000011.9:g.18309023_18309025delinsAAG , CM000673.1:g.18309023_18309025delinsAAG	GRCh37
NC_000011.8:g.18265599_18265601delinsAAG	NCBI36
NG_008877.1:g.39697_39699delinsCTT , LRG_586:g.39697_39699delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349215.8:c.2717+57_2717+59delinsCTT MANE Select	ENSP00000265967.5:n.2717+57_2717+59delinsCTT
ENST00000349215.7:c.2717+57_2717+59delinsCTT	ENSP00000265967.5:n.2717+57_2717+59delinsCTT
ENST00000352460.7:n.1108+57_1108+59delinsCTT
ENST00000396253.7:c.2375+57_2375+59delinsCTT	ENSP00000379552.3:n.2375+57_2375+59delinsCTT
ENST00000438420.6:c.2375+57_2375+59delinsCTT	ENSP00000399590.2:n.2375+57_2375+59delinsCTT
ENST00000544218.5:c.275+57_275+59delinsCTT	ENSP00000441781.1:n.275+57_275+59delinsCTT
ENST00000545561.1:n.778+57_778+59delinsCTT
NM_007216.3:c.2375+57_2375+59delinsCTT	NP_009147.3:n.2375+57_2375+59delinsCTT
NM_181507.1:c.2717+57_2717+59delinsCTT , LRG_586t1:c.2717+57_2717+59delinsCTT	NP_852608.1:n.2717+57_2717+59delinsCTT
NM_181508.1:c.2375+57_2375+59delinsCTT	NP_852609.1:n.2375+57_2375+59delinsCTT
XM_011519862.1:c.2717+57_2717+59delinsCTT	XP_011518164.1:n.2717+57_2717+59delinsCTT
XM_011519863.1:c.2717+57_2717+59delinsCTT	XP_011518165.1:n.2717+57_2717+59delinsCTT
XM_011519864.1:c.2717+57_2717+59delinsCTT	XP_011518166.1:n.2717+57_2717+59delinsCTT
XM_011519865.1:c.2606+57_2606+59delinsCTT	XP_011518167.1:n.2606+57_2606+59delinsCTT
XM_011519866.1:c.2375+57_2375+59delinsCTT	XP_011518168.1:n.2375+57_2375+59delinsCTT
XM_011519867.1:c.2375+57_2375+59delinsCTT	XP_011518169.1:n.2375+57_2375+59delinsCTT
XM_011519868.1:c.2375+57_2375+59delinsCTT	XP_011518170.1:n.2375+57_2375+59delinsCTT
XM_011519869.1:c.2717+57_2717+59delinsCTT	XP_011518171.1:n.2717+57_2717+59delinsCTT
XM_011519868.3:c.2375+57_2375+59delinsCTT	XP_011518170.1:n.2375+57_2375+59delinsCTT
XM_017017149.1:c.2717+57_2717+59delinsCTT	XP_016872638.1:n.2717+57_2717+59delinsCTT
XM_017017150.1:c.2717+57_2717+59delinsCTT	XP_016872639.1:n.2717+57_2717+59delinsCTT
XM_017017151.2:c.2606+57_2606+59delinsCTT	XP_016872640.1:n.2606+57_2606+59delinsCTT
XM_017017152.1:c.2606+57_2606+59delinsCTT	XP_016872641.1:n.2606+57_2606+59delinsCTT
XM_017017153.2:c.2606+57_2606+59delinsCTT	XP_016872642.1:n.2606+57_2606+59delinsCTT
XM_017017154.1:c.2375+57_2375+59delinsCTT	XP_016872643.1:n.2375+57_2375+59delinsCTT
XR_001747750.1:n.2986+57_2986+59delinsCTT
XR_001747751.1:n.2986+57_2986+59delinsCTT
XR_001747752.1:n.2742+57_2742+59delinsCTT
XR_001747753.1:n.2859+57_2859+59delinsCTT
XR_001747754.2:n.2383+57_2383+59delinsCTT
XR_001747755.2:n.2305+57_2305+59delinsCTT
XR_001747756.2:n.2318+57_2318+59delinsCTT
NM_007216.4:c.2375+57_2375+59delinsCTT	NP_009147.3:n.2375+57_2375+59delinsCTT
NM_181507.2:c.2717+57_2717+59delinsCTT MANE Select	NP_852608.1:n.2717+57_2717+59delinsCTT