Canonical Allele Identifier: CA2697548498

Gene: HPS5

Linked Data

• ClinVar Variation Id: 2744093
• ClinVar RCV Id: RCV003560673

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18285347_18285348insTA , CM000673.2:g.18285347_18285348insTA	GRCh38
NC_000011.9:g.18306894_18306895insTA , CM000673.1:g.18306894_18306895insTA	GRCh37
NC_000011.8:g.18263470_18263471insTA	NCBI36
NG_008877.1:g.41827_41828insTA , LRG_586:g.41827_41828insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349215.8:c.2949_2950insTA MANE Select	ENSP00000265967.5:p.Gly984Ter
ENST00000349215.7:c.2949_2950insTA	ENSP00000265967.5:p.Gly984Ter
ENST00000352460.7:n.1228+1243_1228+1244insTA
ENST00000396253.7:c.2607_2608insTA	ENSP00000379552.3:p.Gly870Ter
ENST00000438420.6:c.2607_2608insTA	ENSP00000399590.2:p.Gly870Ter
ENST00000537258.1:c.270_271insTA	ENSP00000437437.1:p.Gly91Ter
ENST00000545561.1:n.1010_1011insTA
NM_007216.3:c.2607_2608insTA	NP_009147.3:p.Gly870Ter
NM_181507.1:c.2949_2950insTA , LRG_586t1:c.2949_2950insTA	NP_852608.1:p.Gly984Ter
NM_181508.1:c.2607_2608insTA	NP_852609.1:p.Gly870Ter
XM_011519862.1:c.2949_2950insTA	XP_011518164.1:p.Gly984Ter
XM_011519863.1:c.2949_2950insTA	XP_011518165.1:p.Gly984Ter
XM_011519864.1:c.2949_2950insTA	XP_011518166.1:p.Gly984Ter
XM_011519865.1:c.2838_2839insTA	XP_011518167.1:p.Gly947Ter
XM_011519866.1:c.2607_2608insTA	XP_011518168.1:p.Gly870Ter
XM_011519867.1:c.2607_2608insTA	XP_011518169.1:p.Gly870Ter
XM_011519868.1:c.2607_2608insTA	XP_011518170.1:p.Gly870Ter
XM_011519869.1:c.2949_2950insTA	XP_011518171.1:p.Gly984Ter
XM_011519868.3:c.2607_2608insTA	XP_011518170.1:p.Gly870Ter
XM_017017149.1:c.2949_2950insTA	XP_016872638.1:p.Gly984Ter
XM_017017150.1:c.2949_2950insTA	XP_016872639.1:p.Gly984Ter
XM_017017151.2:c.2838_2839insTA	XP_016872640.1:p.Gly947Ter
XM_017017152.1:c.2838_2839insTA	XP_016872641.1:p.Gly947Ter
XM_017017153.2:c.2838_2839insTA	XP_016872642.1:p.Gly947Ter
XM_017017154.1:c.2607_2608insTA	XP_016872643.1:p.Gly870Ter
XR_001747750.1:n.3218_3219insTA
XR_001747751.1:n.3218_3219insTA
XR_001747752.1:n.2974_2975insTA
XR_001747753.1:n.3091_3092insTA
XR_001747754.2:n.2615_2616insTA
XR_001747755.2:n.2537_2538insTA
XR_001747756.2:n.2550_2551insTA
NM_007216.4:c.2607_2608insTA	NP_009147.3:p.Gly870Ter
NM_181507.2:c.2949_2950insTA MANE Select	NP_852608.1:p.Gly984Ter