Canonical Allele Identifier: CA2612729419

Gene: HPS5

Linked Data

• gnomAD v4: 11-18287471-TATA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18287473_18287475del , CM000673.2:g.18287473_18287475del	GRCh38
NC_000011.9:g.18309020_18309022del , CM000673.1:g.18309020_18309022del	GRCh37
NC_000011.8:g.18265596_18265598del	NCBI36
NG_008877.1:g.39701_39703del , LRG_586:g.39701_39703del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349215.8:c.2717+61_2717+63del MANE Select	ENSP00000265967.5:n.2717+61_2717+63del
ENST00000349215.7:c.2717+61_2717+63del	ENSP00000265967.5:n.2717+61_2717+63del
ENST00000352460.7:n.1108+61_1108+63del
ENST00000396253.7:c.2375+61_2375+63del	ENSP00000379552.3:n.2375+61_2375+63del
ENST00000438420.6:c.2375+61_2375+63del	ENSP00000399590.2:n.2375+61_2375+63del
ENST00000544218.5:c.275+61_275+63del	ENSP00000441781.1:n.275+61_275+63del
ENST00000545561.1:n.778+61_778+63del
NM_007216.3:c.2375+61_2375+63del	NP_009147.3:n.2375+61_2375+63del
NM_181507.1:c.2717+61_2717+63del , LRG_586t1:c.2717+61_2717+63del	NP_852608.1:n.2717+61_2717+63del
NM_181508.1:c.2375+61_2375+63del	NP_852609.1:n.2375+61_2375+63del
XM_011519862.1:c.2717+61_2717+63del	XP_011518164.1:n.2717+61_2717+63del
XM_011519863.1:c.2717+61_2717+63del	XP_011518165.1:n.2717+61_2717+63del
XM_011519864.1:c.2717+61_2717+63del	XP_011518166.1:n.2717+61_2717+63del
XM_011519865.1:c.2606+61_2606+63del	XP_011518167.1:n.2606+61_2606+63del
XM_011519866.1:c.2375+61_2375+63del	XP_011518168.1:n.2375+61_2375+63del
XM_011519867.1:c.2375+61_2375+63del	XP_011518169.1:n.2375+61_2375+63del
XM_011519868.1:c.2375+61_2375+63del	XP_011518170.1:n.2375+61_2375+63del
XM_011519869.1:c.2717+61_2717+63del	XP_011518171.1:n.2717+61_2717+63del
XM_011519868.3:c.2375+61_2375+63del	XP_011518170.1:n.2375+61_2375+63del
XM_017017149.1:c.2717+61_2717+63del	XP_016872638.1:n.2717+61_2717+63del
XM_017017150.1:c.2717+61_2717+63del	XP_016872639.1:n.2717+61_2717+63del
XM_017017151.2:c.2606+61_2606+63del	XP_016872640.1:n.2606+61_2606+63del
XM_017017152.1:c.2606+61_2606+63del	XP_016872641.1:n.2606+61_2606+63del
XM_017017153.2:c.2606+61_2606+63del	XP_016872642.1:n.2606+61_2606+63del
XM_017017154.1:c.2375+61_2375+63del	XP_016872643.1:n.2375+61_2375+63del
XR_001747750.1:n.2986+61_2986+63del
XR_001747751.1:n.2986+61_2986+63del
XR_001747752.1:n.2742+61_2742+63del
XR_001747753.1:n.2859+61_2859+63del
XR_001747754.2:n.2383+61_2383+63del
XR_001747755.2:n.2305+61_2305+63del
XR_001747756.2:n.2318+61_2318+63del
NM_007216.4:c.2375+61_2375+63del	NP_009147.3:n.2375+61_2375+63del
NM_181507.2:c.2717+61_2717+63del MANE Select	NP_852608.1:n.2717+61_2717+63del