Canonical Allele Identifier: CA935583723

Gene: HPS5

Linked Data

• dbSNP Id: rs1859878027
• gnomAD v3: 11-18287438-TG-T
• gnomAD v4: 11-18287438-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18287440del , CM000673.2:g.18287440del	GRCh38
NC_000011.9:g.18308987del , CM000673.1:g.18308987del	GRCh37
NC_000011.8:g.18265563del	NCBI36
NG_008877.1:g.39736del , LRG_586:g.39736del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349215.8:c.2717+96del MANE Select	ENSP00000265967.5:n.2717+96del
ENST00000349215.7:c.2717+96del	ENSP00000265967.5:n.2717+96del
ENST00000352460.7:n.1108+96del
ENST00000396253.7:c.2375+96del	ENSP00000379552.3:n.2375+96del
ENST00000438420.6:c.2375+96del	ENSP00000399590.2:n.2375+96del
ENST00000544218.5:c.275+96del	ENSP00000441781.1:n.275+96del
ENST00000545561.1:n.778+96del
NM_007216.3:c.2375+96del	NP_009147.3:n.2375+96del
NM_181507.1:c.2717+96del , LRG_586t1:c.2717+96del	NP_852608.1:n.2717+96del
NM_181508.1:c.2375+96del	NP_852609.1:n.2375+96del
XM_011519862.1:c.2717+96del	XP_011518164.1:n.2717+96del
XM_011519863.1:c.2717+96del	XP_011518165.1:n.2717+96del
XM_011519864.1:c.2717+96del	XP_011518166.1:n.2717+96del
XM_011519865.1:c.2606+96del	XP_011518167.1:n.2606+96del
XM_011519866.1:c.2375+96del	XP_011518168.1:n.2375+96del
XM_011519867.1:c.2375+96del	XP_011518169.1:n.2375+96del
XM_011519868.1:c.2375+96del	XP_011518170.1:n.2375+96del
XM_011519869.1:c.2717+96del	XP_011518171.1:n.2717+96del
XM_011519868.3:c.2375+96del	XP_011518170.1:n.2375+96del
XM_017017149.1:c.2717+96del	XP_016872638.1:n.2717+96del
XM_017017150.1:c.2717+96del	XP_016872639.1:n.2717+96del
XM_017017151.2:c.2606+96del	XP_016872640.1:n.2606+96del
XM_017017152.1:c.2606+96del	XP_016872641.1:n.2606+96del
XM_017017153.2:c.2606+96del	XP_016872642.1:n.2606+96del
XM_017017154.1:c.2375+96del	XP_016872643.1:n.2375+96del
XR_001747750.1:n.2986+96del
XR_001747751.1:n.2986+96del
XR_001747752.1:n.2742+96del
XR_001747753.1:n.2859+96del
XR_001747754.2:n.2383+96del
XR_001747755.2:n.2305+96del
XR_001747756.2:n.2318+96del
NM_007216.4:c.2375+96del	NP_009147.3:n.2375+96del
NM_181507.2:c.2717+96del MANE Select	NP_852608.1:n.2717+96del