Canonical Allele Identifier: CA462657866

Gene: TRPS1

Linked Data

• ClinVar Variation Id: 835952
• ClinVar RCV Id: RCV001036958 ; RCV002307657
• dbSNP Id: rs1401148397
• gnomAD v2: 8-116426269-A-AT
• gnomAD v3: 8-115414041-A-AT
• gnomAD v4: 8-115414041-A-AT
• COSMIC: COSM1454352 ; COSM1454353
• MyVariant Identifiers: chr8:g.116426269_116426270insT (hg19) ; chr8:g.115414041_115414042insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.115414048dup , CM000670.2:g.115414048dup	GRCh38
NC_000008.10:g.116426276dup , CM000670.1:g.116426276dup	GRCh37
NC_000008.9:g.116495452dup	NCBI36
NG_012383.3:g.259960dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395715.8:c.3866dup MANE Select	ENSP00000379065.3:p.Asn1289LysfsTer5
ENST00000640765.1:c.3827dup	ENSP00000492037.1:p.Asn1276LysfsTer5
ENST00000220888.9:c.3827dup	ENSP00000220888.5:p.Asn1276LysfsTer5
ENST00000395715.7:c.3866dup	ENSP00000379065.3:p.Asn1289LysfsTer5
ENST00000519076.5:c.3089dup	ENSP00000428910.1:p.Asn1030LysfsTer5
ENST00000520276.5:c.3839dup	ENSP00000428680.1:p.Asn1280LysfsTer5
NM_001282902.2:c.3839dup	NP_001269831.1:p.Asn1280LysfsTer5
NM_001282903.2:c.3845dup	NP_001269832.1:p.Asn1282LysfsTer5
NM_014112.4:c.3866dup	NP_054831.2:p.Asn1289LysfsTer5
XM_005251049.2:c.3827dup	XP_005251106.1:p.Asn1276LysfsTer5
XM_006716625.1:c.3866dup	XP_006716688.1:p.Asn1289LysfsTer5
XM_011517264.1:c.3866dup	XP_011515566.1:p.Asn1289LysfsTer5
XM_011517265.1:c.3866dup	XP_011515567.1:p.Asn1289LysfsTer5
XM_011517266.1:c.3866dup	XP_011515568.1:p.Asn1289LysfsTer5
XM_011517267.1:c.3845dup	XP_011515569.1:p.Asn1282LysfsTer5
XM_011517268.1:c.3827dup	XP_011515570.1:p.Asn1276LysfsTer5
NM_001330599.1:c.3827dup	NP_001317528.1:p.Asn1276LysfsTer5
XM_011517264.2:c.3866dup	XP_011515566.1:p.Asn1289LysfsTer5
XM_011517266.3:c.3866dup	XP_011515568.1:p.Asn1289LysfsTer5
XM_011517268.2:c.3827dup	XP_011515570.1:p.Asn1276LysfsTer5
NM_001282902.3:c.3839dup	NP_001269831.1:p.Asn1280LysfsTer5
NM_001282903.3:c.3845dup	NP_001269832.1:p.Asn1282LysfsTer5
NM_001330599.2:c.3827dup	NP_001317528.1:p.Asn1276LysfsTer5
NM_014112.5:c.3866dup MANE Select	NP_054831.2:p.Asn1289LysfsTer5