Canonical Allele Identifier: CA638781504

Gene: HPS4

Linked Data

• dbSNP Id: rs1387347922
• gnomAD v2: 22-26853964-GCAGA-G
• gnomAD v3: 22-26457998-GCAGA-G
• gnomAD v4: 22-26457998-GCAGA-G
• MyVariant Identifiers: chr22:g.26853965_26853968del (hg19) ; chr22:g.26457999_26458002del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26458002_26458005del , CM000684.2:g.26458002_26458005del	GRCh38
NC_000022.10:g.26853968_26853971del , CM000684.1:g.26853968_26853971del	GRCh37
NC_000022.9:g.25183968_25183971del	NCBI36
NG_009763.2:g.30862_30865del , LRG_590:g.30862_30865del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422379.3:c.1901-35_1901-32del	ENSP00000415081.3:n.1901-35_1901-32del
ENST00000473782.2:c.1847-35_1847-32del	ENSP00000514223.1:n.1847-35_1847-32del
ENST00000483631.2:c.1052-35_1052-32del	ENSP00000514228.1:n.1052-35_1052-32del
ENST00000491142.2:c.1847-35_1847-32del	ENSP00000514221.1:n.1847-35_1847-32del
ENST00000699226.1:n.4773-35_4773-32del
ENST00000699227.1:c.*1191-35_*1191-32del	ENSP00000514220.1:n.*1191-35_*1191-32del
ENST00000699228.1:n.2397-35_2397-32del
ENST00000699229.1:n.1264-35_1264-32del
ENST00000699230.1:n.2570-35_2570-32del
ENST00000699231.1:n.4859-35_4859-32del
ENST00000699232.1:n.3203-35_3203-32del
ENST00000699233.1:n.1718-35_1718-32del
ENST00000699234.1:c.*1191-35_*1191-32del	ENSP00000514222.1:n.*1191-35_*1191-32del
ENST00000699235.1:c.1052-35_1052-32del	ENSP00000514224.1:n.1052-35_1052-32del
ENST00000699236.1:c.*1036-35_*1036-32del	ENSP00000514225.1:n.*1036-35_*1036-32del
ENST00000699237.1:c.*1036-35_*1036-32del	ENSP00000514226.1:n.*1036-35_*1036-32del
ENST00000699238.1:c.*1390-35_*1390-32del	ENSP00000514227.1:n.*1390-35_*1390-32del
ENST00000699239.1:n.4601-35_4601-32del
ENST00000699240.1:c.*1504-35_*1504-32del	ENSP00000514229.1:n.*1504-35_*1504-32del
ENST00000699241.1:c.*2039-35_*2039-32del	ENSP00000514230.1:n.*2039-35_*2039-32del
ENST00000699242.1:c.1757-35_1757-32del	ENSP00000514231.1:n.1757-35_1757-32del
ENST00000699243.1:c.*1191-35_*1191-32del	ENSP00000514232.1:n.*1191-35_*1191-32del
ENST00000699244.1:c.1700-35_1700-32del	ENSP00000514233.1:n.1700-35_1700-32del
ENST00000699245.1:n.1104_1107del
ENST00000699246.1:c.*1218-35_*1218-32del	ENSP00000514234.1:n.*1218-35_*1218-32del
ENST00000699247.1:c.803-35_803-32del	ENSP00000514235.1:n.803-35_803-32del
ENST00000699248.1:n.3784-4598_3784-4595del
ENST00000699249.1:c.*1058-4598_*1058-4595del	ENSP00000514236.1:n.*1058-4598_*1058-4595del
ENST00000699250.1:c.1714-4598_1714-4595del	ENSP00000514237.1:n.1714-4598_1714-4595del
ENST00000699251.1:c.1847-35_1847-32del	ENSP00000514238.1:n.1847-35_1847-32del
ENST00000699252.1:n.2397-35_2397-32del
ENST00000398145.7:c.1847-35_1847-32del MANE Select	ENSP00000381213.2:n.1847-35_1847-32del
ENST00000336873.9:c.1847-35_1847-32del	ENSP00000338457.5:n.1847-35_1847-32del
ENST00000398145.6:c.1847-35_1847-32del	ENSP00000381213.2:n.1847-35_1847-32del
ENST00000402105.7:c.1832-35_1832-32del	ENSP00000384185.3:n.1832-35_1832-32del
ENST00000429411.5:c.*1419-35_*1419-32del	ENSP00000399705.1:n.*1419-35_*1419-32del
ENST00000439453.5:c.*1365-35_*1365-32del	ENSP00000406764.1:n.*1365-35_*1365-32del
ENST00000464362.5:c.*2178-35_*2178-32del	ENSP00000430291.1:n.*2178-35_*2178-32del
ENST00000466781.5:n.4706-35_4706-32del
ENST00000485842.5:n.538-35_538-32del
ENST00000493455.6:n.410-35_410-32del
ENST00000496385.5:n.2480-4598_2480-4595del
ENST00000519774.5:n.233-35_233-32del
NM_022081.5:c.1847-35_1847-32del , LRG_590t1:c.1847-35_1847-32del	NP_071364.4:n.1847-35_1847-32del
NM_152841.2:c.1832-35_1832-32del , LRG_590t2:c.1832-35_1832-32del	NP_690054.1:n.1832-35_1832-32del
NR_073135.1:n.2533-35_2533-32del
NR_073136.1:n.2295-35_2295-32del
XM_006724353.2:c.1901-35_1901-32del	XP_006724416.1:n.1901-35_1901-32del
XM_006724354.2:c.1901-35_1901-32del	XP_006724417.1:n.1901-35_1901-32del
XM_006724360.2:c.1334-35_1334-32del	XP_006724423.1:n.1334-35_1334-32del
XM_011530485.1:c.1979-35_1979-32del	XP_011528787.1:n.1979-35_1979-32del
XM_011530486.1:c.1979-35_1979-32del	XP_011528788.1:n.1979-35_1979-32del
XM_011530487.1:c.1979-35_1979-32del	XP_011528789.1:n.1979-35_1979-32del
XM_011530488.1:c.1979-35_1979-32del	XP_011528790.1:n.1979-35_1979-32del
XM_011530489.1:c.1979-35_1979-32del	XP_011528791.1:n.1979-35_1979-32del
XM_011530490.1:c.1925-35_1925-32del	XP_011528792.1:n.1925-35_1925-32del
XM_011530491.1:c.1979-35_1979-32del	XP_011528793.1:n.1979-35_1979-32del
XM_011530492.1:c.1979-35_1979-32del	XP_011528794.1:n.1979-35_1979-32del
XM_011530493.1:c.1846-4598_1846-4595del	XP_011528795.1:n.1846-4598_1846-4595del
XM_011530494.1:c.1187-35_1187-32del	XP_011528796.1:n.1187-35_1187-32del
XM_011530495.1:c.1334-35_1334-32del	XP_011528797.1:n.1334-35_1334-32del
XM_011530496.1:c.1187-35_1187-32del	XP_011528798.1:n.1187-35_1187-32del
XR_937947.1:n.2638-35_2638-32del
NM_001349896.1:c.1847-35_1847-32del	NP_001336825.1:n.1847-35_1847-32del
NM_001349898.1:c.1847-35_1847-32del	NP_001336827.1:n.1847-35_1847-32del
NM_001349899.1:c.1847-35_1847-32del	NP_001336828.1:n.1847-35_1847-32del
NM_001349900.1:c.1901-35_1901-32del	NP_001336829.1:n.1901-35_1901-32del
NM_001349901.1:c.1901-35_1901-32del	NP_001336830.1:n.1901-35_1901-32del
NM_001349902.1:c.1714-4598_1714-4595del	NP_001336831.1:n.1714-4598_1714-4595del
NM_001349903.1:c.1714-4598_1714-4595del	NP_001336832.1:n.1714-4598_1714-4595del
NM_001349904.1:c.1847-35_1847-32del	NP_001336833.1:n.1847-35_1847-32del
NM_001349905.1:c.1847-35_1847-32del	NP_001336834.1:n.1847-35_1847-32del
NR_146311.1:n.2624-35_2624-32del
NR_146312.1:n.2449-35_2449-32del
NR_146313.1:n.2469-35_2469-32del
NR_146314.1:n.2600-35_2600-32del
NR_146315.1:n.2540-35_2540-32del
NR_146316.1:n.2515-35_2515-32del
XM_006724360.3:c.1334-35_1334-32del	XP_006724423.1:n.1334-35_1334-32del
XM_011530485.2:c.1979-35_1979-32del	XP_011528787.1:n.1979-35_1979-32del
XM_011530486.2:c.1979-35_1979-32del	XP_011528788.1:n.1979-35_1979-32del
XM_011530487.2:c.1979-35_1979-32del	XP_011528789.1:n.1979-35_1979-32del
XM_011530488.2:c.1979-35_1979-32del	XP_011528790.1:n.1979-35_1979-32del
XM_011530489.2:c.1979-35_1979-32del	XP_011528791.1:n.1979-35_1979-32del
XM_011530490.3:c.1925-35_1925-32del	XP_011528792.1:n.1925-35_1925-32del
XM_011530491.3:c.1979-35_1979-32del	XP_011528793.1:n.1979-35_1979-32del
XM_011530492.2:c.1979-35_1979-32del	XP_011528794.1:n.1979-35_1979-32del
XM_011530493.3:c.1846-4598_1846-4595del	XP_011528795.1:n.1846-4598_1846-4595del
XM_011530494.2:c.1187-35_1187-32del	XP_011528796.1:n.1187-35_1187-32del
XM_011530495.2:c.1334-35_1334-32del	XP_011528797.1:n.1334-35_1334-32del
XM_011530496.2:c.1187-35_1187-32del	XP_011528798.1:n.1187-35_1187-32del
XM_017029045.2:c.1925-35_1925-32del	XP_016884534.1:n.1925-35_1925-32del
XM_017029046.2:c.1847-35_1847-32del	XP_016884535.1:n.1847-35_1847-32del
XM_017029047.2:c.1792-4598_1792-4595del	XP_016884536.1:n.1792-4598_1792-4595del
XM_017029052.2:c.1439-35_1439-32del	XP_016884541.1:n.1439-35_1439-32del
XM_017029053.1:c.1424-35_1424-32del	XP_016884542.1:n.1424-35_1424-32del
XM_017029056.2:c.1052-35_1052-32del	XP_016884545.1:n.1052-35_1052-32del
XM_017029061.2:c.1052-35_1052-32del	XP_016884550.1:n.1052-35_1052-32del
XM_017029062.2:c.1052-35_1052-32del	XP_016884551.1:n.1052-35_1052-32del
XM_017029063.2:c.1052-35_1052-32del	XP_016884552.1:n.1052-35_1052-32del
XM_017029064.2:c.1052-35_1052-32del	XP_016884553.1:n.1052-35_1052-32del
XM_024452298.1:c.1220-35_1220-32del	XP_024308066.1:n.1220-35_1220-32del
XM_024452299.1:c.1052-35_1052-32del	XP_024308067.1:n.1052-35_1052-32del
XM_024452300.1:c.1052-35_1052-32del	XP_024308068.1:n.1052-35_1052-32del
XR_001755361.2:n.2555-35_2555-32del
XR_001755364.1:n.2278-4598_2278-4595del
XR_001755366.2:n.3084-35_3084-32del
XR_002958721.1:n.2500-4598_2500-4595del
XR_937947.2:n.2633-35_2633-32del
NM_001349898.2:c.1847-35_1847-32del	NP_001336827.1:n.1847-35_1847-32del
NM_001349899.2:c.1847-35_1847-32del	NP_001336828.1:n.1847-35_1847-32del
NM_001349900.2:c.1901-35_1901-32del	NP_001336829.1:n.1901-35_1901-32del
NM_001349903.2:c.1714-4598_1714-4595del	NP_001336832.1:n.1714-4598_1714-4595del
NM_001349904.2:c.1847-35_1847-32del	NP_001336833.1:n.1847-35_1847-32del
NR_073136.2:n.2102-35_2102-32del
NR_146311.2:n.2544-35_2544-32del
NR_146313.2:n.2389-35_2389-32del
NR_146315.2:n.2460-35_2460-32del
NM_022081.6:c.1847-35_1847-32del MANE Select	NP_071364.4:n.1847-35_1847-32del
NR_146316.2:n.2435-35_2435-32del