Canonical Allele Identifier: CA2612727713

Gene: HPS5

Linked Data

• gnomAD v4: 11-18285298-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18285298_18285299insA , CM000673.2:g.18285298_18285299insA	GRCh38
NC_000011.9:g.18306845_18306846insA , CM000673.1:g.18306845_18306846insA	GRCh37
NC_000011.8:g.18263421_18263422insA	NCBI36
NG_008877.1:g.41876_41877insT , LRG_586:g.41876_41877insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000349215.8:c.2951+47_2951+48insT MANE Select	ENSP00000265967.5:n.2951+47_2951+48insT
ENST00000349215.7:c.2951+47_2951+48insT	ENSP00000265967.5:n.2951+47_2951+48insT
ENST00000352460.7:n.1228+1292_1228+1293insT
ENST00000396253.7:c.2609+47_2609+48insT	ENSP00000379552.3:n.2609+47_2609+48insT
ENST00000438420.6:c.2609+47_2609+48insT	ENSP00000399590.2:n.2609+47_2609+48insT
ENST00000537258.1:c.272+47_272+48insT	ENSP00000437437.1:n.272+47_272+48insT
ENST00000545561.1:n.1012+47_1012+48insT
NM_007216.3:c.2609+47_2609+48insT	NP_009147.3:n.2609+47_2609+48insT
NM_181507.1:c.2951+47_2951+48insT , LRG_586t1:c.2951+47_2951+48insT	NP_852608.1:n.2951+47_2951+48insT
NM_181508.1:c.2609+47_2609+48insT	NP_852609.1:n.2609+47_2609+48insT
XM_011519862.1:c.2951+47_2951+48insT	XP_011518164.1:n.2951+47_2951+48insT
XM_011519863.1:c.2951+47_2951+48insT	XP_011518165.1:n.2951+47_2951+48insT
XM_011519864.1:c.2951+47_2951+48insT	XP_011518166.1:n.2951+47_2951+48insT
XM_011519865.1:c.2840+47_2840+48insT	XP_011518167.1:n.2840+47_2840+48insT
XM_011519866.1:c.2609+47_2609+48insT	XP_011518168.1:n.2609+47_2609+48insT
XM_011519867.1:c.2609+47_2609+48insT	XP_011518169.1:n.2609+47_2609+48insT
XM_011519868.1:c.2609+47_2609+48insT	XP_011518170.1:n.2609+47_2609+48insT
XM_011519869.1:c.2951+47_2951+48insT	XP_011518171.1:n.2951+47_2951+48insT
XM_011519868.3:c.2609+47_2609+48insT	XP_011518170.1:n.2609+47_2609+48insT
XM_017017149.1:c.2951+47_2951+48insT	XP_016872638.1:n.2951+47_2951+48insT
XM_017017150.1:c.2951+47_2951+48insT	XP_016872639.1:n.2951+47_2951+48insT
XM_017017151.2:c.2840+47_2840+48insT	XP_016872640.1:n.2840+47_2840+48insT
XM_017017152.1:c.2840+47_2840+48insT	XP_016872641.1:n.2840+47_2840+48insT
XM_017017153.2:c.2840+47_2840+48insT	XP_016872642.1:n.2840+47_2840+48insT
XM_017017154.1:c.2609+47_2609+48insT	XP_016872643.1:n.2609+47_2609+48insT
XR_001747750.1:n.3220+47_3220+48insT
XR_001747751.1:n.3220+47_3220+48insT
XR_001747752.1:n.2976+47_2976+48insT
XR_001747753.1:n.3093+47_3093+48insT
XR_001747754.2:n.2617+47_2617+48insT
XR_001747755.2:n.2539+47_2539+48insT
XR_001747756.2:n.2552+47_2552+48insT
NM_007216.4:c.2609+47_2609+48insT	NP_009147.3:n.2609+47_2609+48insT
NM_181507.2:c.2951+47_2951+48insT MANE Select	NP_852608.1:n.2951+47_2951+48insT