Canonical Allele Identifier: CA1955535949

Gene: HPS5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18303508_18303510delinsCTA , CM000673.2:g.18303508_18303510delinsCTA	GRCh38
NC_000011.9:g.18325055_18325057delinsCTA , CM000673.1:g.18325055_18325057delinsCTA	GRCh37
NC_000011.8:g.18281631_18281633delinsCTA	NCBI36
NG_008877.1:g.23665_23667delinsTAG , LRG_586:g.23665_23667delinsTAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000349215.8:c.896+1912_896+1914delinsTAG MANE Select	ENSP00000265967.5:n.896+1912_896+1914delinsTAG
ENST00000349215.7:c.896+1912_896+1914delinsTAG	ENSP00000265967.5:n.896+1912_896+1914delinsTAG
ENST00000396253.7:c.554+1912_554+1914delinsTAG	ENSP00000379552.3:n.554+1912_554+1914delinsTAG
ENST00000438420.6:c.554+1912_554+1914delinsTAG	ENSP00000399590.2:n.554+1912_554+1914delinsTAG
ENST00000531848.1:c.554+1912_554+1914delinsTAG	ENSP00000431758.1:n.554+1912_554+1914delinsTAG
NM_007216.3:c.554+1912_554+1914delinsTAG	NP_009147.3:n.554+1912_554+1914delinsTAG
NM_181507.1:c.896+1912_896+1914delinsTAG , LRG_586t1:c.896+1912_896+1914delinsTAG	NP_852608.1:n.896+1912_896+1914delinsTAG
NM_181508.1:c.554+1912_554+1914delinsTAG	NP_852609.1:n.554+1912_554+1914delinsTAG
XM_011519862.1:c.896+1912_896+1914delinsTAG	XP_011518164.1:n.896+1912_896+1914delinsTAG
XM_011519863.1:c.896+1912_896+1914delinsTAG	XP_011518165.1:n.896+1912_896+1914delinsTAG
XM_011519864.1:c.896+1912_896+1914delinsTAG	XP_011518166.1:n.896+1912_896+1914delinsTAG
XM_011519865.1:c.785+1912_785+1914delinsTAG	XP_011518167.1:n.785+1912_785+1914delinsTAG
XM_011519866.1:c.554+1912_554+1914delinsTAG	XP_011518168.1:n.554+1912_554+1914delinsTAG
XM_011519867.1:c.554+1912_554+1914delinsTAG	XP_011518169.1:n.554+1912_554+1914delinsTAG
XM_011519868.1:c.554+1912_554+1914delinsTAG	XP_011518170.1:n.554+1912_554+1914delinsTAG
XM_011519869.1:c.896+1912_896+1914delinsTAG	XP_011518171.1:n.896+1912_896+1914delinsTAG
XM_011519870.1:c.896+1912_896+1914delinsTAG	XP_011518172.1:n.896+1912_896+1914delinsTAG
XM_011519871.1:c.896+1912_896+1914delinsTAG	XP_011518173.1:n.896+1912_896+1914delinsTAG
XM_011519868.3:c.554+1912_554+1914delinsTAG	XP_011518170.1:n.554+1912_554+1914delinsTAG
XM_017017149.1:c.896+1912_896+1914delinsTAG	XP_016872638.1:n.896+1912_896+1914delinsTAG
XM_017017150.1:c.896+1912_896+1914delinsTAG	XP_016872639.1:n.896+1912_896+1914delinsTAG
XM_017017151.2:c.785+1912_785+1914delinsTAG	XP_016872640.1:n.785+1912_785+1914delinsTAG
XM_017017152.1:c.785+1912_785+1914delinsTAG	XP_016872641.1:n.785+1912_785+1914delinsTAG
XM_017017153.2:c.785+1912_785+1914delinsTAG	XP_016872642.1:n.785+1912_785+1914delinsTAG
XM_017017154.1:c.554+1912_554+1914delinsTAG	XP_016872643.1:n.554+1912_554+1914delinsTAG
XR_001747750.1:n.1165+1912_1165+1914delinsTAG
XR_001747751.1:n.1165+1912_1165+1914delinsTAG
XR_001747752.1:n.921+1912_921+1914delinsTAG
XR_001747753.1:n.1038+1912_1038+1914delinsTAG
XR_001747754.2:n.1140+1912_1140+1914delinsTAG
XR_001747755.2:n.1140+1912_1140+1914delinsTAG
XR_001747756.2:n.1153+1912_1153+1914delinsTAG
NM_007216.4:c.554+1912_554+1914delinsTAG	NP_009147.3:n.554+1912_554+1914delinsTAG
NM_181507.2:c.896+1912_896+1914delinsTAG MANE Select	NP_852608.1:n.896+1912_896+1914delinsTAG