Canonical Allele Identifier: CA645509473

Gene: TRPS1

Linked Data

• ClinVar Variation Id: 438474
• ClinVar RCV Id: RCV000505275
• dbSNP Id: rs1554616802
• MyVariant Identifiers: chr8:g.116426712del (hg19) ; chr8:g.115414484del (hg38)
• PubMed: PMID:25792522 ; PMID:28426188

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?