Canonical Allele Identifier: CA3038986262
Gene: PSTPIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.77032303_77032304del , CM000677.2:g.77032303_77032304del GRCh38
NC_000015.9:g.77324644_77324645del , CM000677.1:g.77324644_77324645del GRCh37
NC_000015.8:g.75111699_75111700del NCBI36
NG_007526.1:g.42180_42181del , LRG_172:g.42180_42181del

Transcript Alleles

HGVS Amino-acid Change
ENST00000697622.1:n.1446_1447del
ENST00000697623.1:n.2166_2167del
ENST00000558012.6:c.747_748del MANE Select ENSP00000452746.1:p.Tyr249Ter
ENST00000379595.7:c.747_748del ENSP00000368914.3:p.Tyr249Ter
ENST00000557995.1:n.411_412del
ENST00000558012.5:c.747_748del ENSP00000452746.1:p.Tyr249Ter
ENST00000559295.5:c.747_748del ENSP00000452743.1:p.Tyr249Ter
ENST00000559785.5:c.942_943del ENSP00000452986.1:p.Tyr314Ter
ENST00000559856.1:c.666_667del ENSP00000453382.1:p.Tyr222Ter
ENST00000560223.5:c.*849_*850del ENSP00000454118.1:n.*849_*850del
ENST00000560377.5:n.988_989del
NM_003978.3:c.747_748del , LRG_172t1:c.747_748del NP_003969.2:p.Tyr249Ter
XM_006720737.2:c.381_382del XP_006720800.1:p.Tyr127Ter
XM_011522163.1:c.804_805del XP_011520465.1:p.Tyr268Ter
XM_011522164.1:c.702_703del XP_011520466.1:p.Tyr234Ter
XM_011522165.1:c.600_601del XP_011520467.1:p.Tyr200Ter
XM_011522166.1:c.804_805del XP_011520468.1:p.Tyr268Ter
XM_011522167.1:c.804_805del XP_011520469.1:p.Tyr268Ter
XM_011522168.1:c.804_805del XP_011520470.1:p.Tyr268Ter
XM_011522169.1:c.798+1025_798+1026del XP_011520471.1:n.798+1025_798+1026del
XM_011522170.1:c.371+2729_371+2730del XP_011520472.1:n.371+2729_371+2730del
XM_011522171.1:c.311+2729_311+2730del XP_011520473.1:n.311+2729_311+2730del
XM_011522172.1:c.311+2729_311+2730del XP_011520474.1:n.311+2729_311+2730del
XM_011522173.1:c.311+2729_311+2730del XP_011520475.1:n.311+2729_311+2730del
XR_931936.1:n.1254_1255del
XR_931937.1:n.1197_1198del
XR_931938.1:n.1254_1255del
XR_931939.1:n.1248+1025_1248+1026del
XR_931940.1:n.1069+2729_1069+2730del
NM_001321135.1:c.747_748del NP_001308064.1:p.Tyr249Ter
NM_001321136.1:c.720_721del NP_001308065.1:p.Tyr240Ter
NM_001321137.1:c.942_943del NP_001308066.1:p.Tyr314Ter
NM_003978.4:c.747_748del NP_003969.2:p.Tyr249Ter
NR_135552.1:n.1150+1025_1150+1026del
XM_006720737.3:c.381_382del XP_006720800.1:p.Tyr127Ter
XM_011522163.2:c.804_805del XP_011520465.1:p.Tyr268Ter
XM_011522165.2:c.600_601del XP_011520467.1:p.Tyr200Ter
XM_011522166.2:c.804_805del XP_011520468.1:p.Tyr268Ter
XM_011522167.2:c.804_805del XP_011520469.1:p.Tyr268Ter
XM_011522168.3:c.804_805del XP_011520470.1:p.Tyr268Ter
XM_011522169.2:c.798+1025_798+1026del XP_011520471.1:n.798+1025_798+1026del
XR_931936.2:n.1252_1253del
XR_931937.2:n.1195_1196del
XR_931938.2:n.1252_1253del
XR_931939.2:n.1246+1025_1246+1026del
NM_001321135.2:c.747_748del NP_001308064.1:p.Tyr249Ter
NM_001321136.2:c.720_721del NP_001308065.1:p.Tyr240Ter
NM_003978.5:c.747_748del MANE Select NP_003969.2:p.Tyr249Ter
NR_135552.2:n.1109+1025_1109+1026del