Canonical Allele Identifier: CA619193368

Gene: PSTPIP1

Linked Data

• dbSNP Id: rs962901045
• gnomAD v2: 15-77325287-TAA-T
• gnomAD v4: 15-77032946-TAA-T
• MyVariant Identifiers: chr15:g.77325288_77325289del (hg19) ; chr15:g.77032947_77032948del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032948_77032949del , CM000677.2:g.77032948_77032949del	GRCh38
NC_000015.9:g.77325289_77325290del , CM000677.1:g.77325289_77325290del	GRCh37
NC_000015.8:g.75112344_75112345del	NCBI36
NG_007526.1:g.42825_42826del , LRG_172:g.42825_42826del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.2091_2092del
ENST00000697623.1:n.2344_2345del
ENST00000558012.6:c.925_926del MANE Select	ENSP00000452746.1:p.Lys309GlufsTer?
ENST00000379595.7:c.925_926del	ENSP00000368914.3:p.Lys309GlufsTer20
ENST00000557995.1:n.589_590del
ENST00000558012.5:c.925_926del	ENSP00000452746.1:p.Lys309GlufsTer?
ENST00000558870.1:c.78+554_78+555del
ENST00000559295.5:c.872+520_872+521del	ENSP00000452743.1:n.872+520_872+521del
ENST00000559785.5:c.1154_1155del	ENSP00000452986.1:p.Lys385ArgfsTer26
ENST00000560223.5:c.*1027_*1028del	ENSP00000454118.1:n.*1027_*1028del
NM_003978.3:c.925_926del , LRG_172t1:c.925_926del	NP_003969.2:p.Lys309GlufsTer?
XM_006720737.2:c.559_560del	XP_006720800.1:p.Lys187GlufsTer?
XM_011522163.1:c.982_983del	XP_011520465.1:p.Lys328GlufsTer20
XM_011522164.1:c.880_881del	XP_011520466.1:p.Lys294GlufsTer?
XM_011522165.1:c.778_779del	XP_011520467.1:p.Lys260GlufsTer?
XM_011522166.1:c.1016_1017del	XP_011520468.1:p.Lys339ArgfsTer23
XM_011522167.1:c.895+554_895+555del	XP_011520469.1:n.895+554_895+555del
XM_011522168.1:c.982_983del	XP_011520470.1:p.Lys328GlufsTer?
XM_011522169.1:c.798+1670_798+1671del	XP_011520471.1:n.798+1670_798+1671del
XM_011522170.1:c.372-2560_372-2559del	XP_011520472.1:n.372-2560_372-2559del
XM_011522171.1:c.312-2560_312-2559del	XP_011520473.1:n.312-2560_312-2559del
XM_011522172.1:c.312-2560_312-2559del	XP_011520474.1:n.312-2560_312-2559del
XM_011522173.1:c.312-2560_312-2559del	XP_011520475.1:n.312-2560_312-2559del
XR_931936.1:n.1466_1467del
XR_931937.1:n.1409_1410del
XR_931938.1:n.1345+554_1345+555del
XR_931939.1:n.1248+1670_1248+1671del
XR_931940.1:n.1070-2560_1070-2559del
NM_001321135.1:c.872+520_872+521del	NP_001308064.1:n.872+520_872+521del
NM_001321136.1:c.898_899del	NP_001308065.1:p.Lys300GlufsTer?
NM_001321137.1:c.1120_1121del	NP_001308066.1:p.Lys374GlufsTer?
NM_003978.4:c.925_926del	NP_003969.2:p.Lys309GlufsTer?
NR_135552.1:n.1150+1670_1150+1671del
XM_006720737.3:c.559_560del	XP_006720800.1:p.Lys187GlufsTer?
XM_011522163.2:c.982_983del	XP_011520465.1:p.Lys328GlufsTer20
XM_011522165.2:c.778_779del	XP_011520467.1:p.Lys260GlufsTer?
XM_011522166.2:c.1016_1017del	XP_011520468.1:p.Lys339ArgfsTer23
XM_011522167.2:c.895+554_895+555del	XP_011520469.1:n.895+554_895+555del
XM_011522168.3:c.982_983del	XP_011520470.1:p.Lys328GlufsTer?
XM_011522169.2:c.798+1670_798+1671del	XP_011520471.1:n.798+1670_798+1671del
XR_931936.2:n.1464_1465del
XR_931937.2:n.1407_1408del
XR_931938.2:n.1343+554_1343+555del
XR_931939.2:n.1246+1670_1246+1671del
NM_001321135.2:c.872+520_872+521del	NP_001308064.1:n.872+520_872+521del
NM_001321136.2:c.898_899del	NP_001308065.1:p.Lys300GlufsTer?
NM_003978.5:c.925_926del MANE Select	NP_003969.2:p.Lys309GlufsTer?
NR_135552.2:n.1109+1670_1109+1671del