Canonical Allele Identifier: CA935583771

Gene: HPS5

Linked Data

• dbSNP Id: rs1859891745
• gnomAD v3: 11-18287526-CCTT-C
• gnomAD v4: 11-18287526-CCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18287529_18287531del , CM000673.2:g.18287529_18287531del	GRCh38
NC_000011.9:g.18309076_18309078del , CM000673.1:g.18309076_18309078del	GRCh37
NC_000011.8:g.18265652_18265654del	NCBI36
NG_008877.1:g.39646_39648del , LRG_586:g.39646_39648del

Transcript Alleles

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