Canonical Allele Identifier: CA645509473
Gene: TRPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 438474
ClinVar RCV Id: RCV000505275
dbSNP Id: rs1554616802

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.115414484del , CM000670.2:g.115414484del GRCh38
NC_000008.10:g.116426712del , CM000670.1:g.116426712del GRCh37
NC_000008.9:g.116495888del NCBI36
NG_012383.3:g.259518del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395715.8:c.3424del MANE Select ENSP00000379065.3:p.Ser1142ValfsTer?
ENST00000640765.1:c.3385del ENSP00000492037.1:p.Ser1129ValfsTer?
ENST00000220888.9:c.3385del ENSP00000220888.5:p.Ser1129ValfsTer?
ENST00000395715.7:c.3424del ENSP00000379065.3:p.Ser1142ValfsTer?
ENST00000518018.1:c.758del
ENST00000519076.5:c.2647del ENSP00000428910.1:p.Ser883ValfsTer?
ENST00000520276.5:c.3397del ENSP00000428680.1:p.Ser1133ValfsTer?
NM_001282902.2:c.3397del NP_001269831.1:p.Ser1133ValfsTer?
NM_001282903.2:c.3403del NP_001269832.1:p.Ser1135ValfsTer?
NM_014112.4:c.3424del NP_054831.2:p.Ser1142ValfsTer?
XM_005251049.2:c.3385del XP_005251106.1:p.Ser1129ValfsTer?
XM_006716625.1:c.3424del XP_006716688.1:p.Ser1142ValfsTer?
XM_011517264.1:c.3424del XP_011515566.1:p.Ser1142ValfsTer?
XM_011517265.1:c.3424del XP_011515567.1:p.Ser1142ValfsTer?
XM_011517266.1:c.3424del XP_011515568.1:p.Ser1142ValfsTer?
XM_011517267.1:c.3403del XP_011515569.1:p.Ser1135ValfsTer?
XM_011517268.1:c.3385del XP_011515570.1:p.Ser1129ValfsTer?
NM_001330599.1:c.3385del NP_001317528.1:p.Ser1129ValfsTer?
XM_011517264.2:c.3424del XP_011515566.1:p.Ser1142ValfsTer?
XM_011517266.3:c.3424del XP_011515568.1:p.Ser1142ValfsTer?
XM_011517268.2:c.3385del XP_011515570.1:p.Ser1129ValfsTer?
NM_001282902.3:c.3397del NP_001269831.1:p.Ser1133ValfsTer?
NM_001282903.3:c.3403del NP_001269832.1:p.Ser1135ValfsTer?
NM_001330599.2:c.3385del NP_001317528.1:p.Ser1129ValfsTer?
NM_014112.5:c.3424del MANE Select NP_054831.2:p.Ser1142ValfsTer?