Canonical Allele Identifier: CA16618583
Gene: TRPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419064
ClinVar RCV Id: RCV000479842 RCV000856768
dbSNP Id: rs1554617582
MyVariant Identifiers: chr8:g.116430656dupA (hg19) chr8:g.116430655_116430656insA (hg19) chr8:g.115418428dupA (hg38) chr8:g.115418427_115418428insA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.115418433dup , CM000670.2:g.115418433dup GRCh38
NC_000008.10:g.116430661dup , CM000670.1:g.116430661dup GRCh37
NC_000008.9:g.116499837dup NCBI36
NG_012383.3:g.255574dup

Transcript Alleles

HGVS Amino-acid change
ENST00000395715.8:c.2725dup MANE Select ENSP00000379065.3:p.Cys909LeufsTer?
ENST00000640765.1:c.2686dup ENSP00000492037.1:p.Cys896LeufsTer?
ENST00000220888.9:c.2686dup ENSP00000220888.5:p.Cys896LeufsTer?
ENST00000395715.7:c.2725dup ENSP00000379065.3:p.Cys909LeufsTer?
ENST00000518018.1:c.59dup
ENST00000519076.5:c.1948dup ENSP00000428910.1:p.Cys650LeufsTer?
ENST00000520276.5:c.2698dup ENSP00000428680.1:p.Cys900LeufsTer?
NM_001282902.2:c.2698dup NP_001269831.1:p.Cys900LeufsTer?
NM_001282903.2:c.2704dup NP_001269832.1:p.Cys902LeufsTer?
NM_014112.4:c.2725dup NP_054831.2:p.Cys909LeufsTer?
XM_005251049.2:c.2686dup XP_005251106.1:p.Cys896LeufsTer?
XM_006716625.1:c.2725dup XP_006716688.1:p.Cys909LeufsTer?
XM_011517264.1:c.2725dup XP_011515566.1:p.Cys909LeufsTer?
XM_011517265.1:c.2725dup XP_011515567.1:p.Cys909LeufsTer?
XM_011517266.1:c.2725dup XP_011515568.1:p.Cys909LeufsTer?
XM_011517267.1:c.2704dup XP_011515569.1:p.Cys902LeufsTer?
XM_011517268.1:c.2686dup XP_011515570.1:p.Cys896LeufsTer?
NM_001330599.1:c.2686dup NP_001317528.1:p.Cys896LeufsTer?
XM_011517264.2:c.2725dup XP_011515566.1:p.Cys909LeufsTer?
XM_011517266.3:c.2725dup XP_011515568.1:p.Cys909LeufsTer?
XM_011517268.2:c.2686dup XP_011515570.1:p.Cys896LeufsTer?
NM_001282902.3:c.2698dup NP_001269831.1:p.Cys900LeufsTer?
NM_001282903.3:c.2704dup NP_001269832.1:p.Cys902LeufsTer?
NM_001330599.2:c.2686dup NP_001317528.1:p.Cys896LeufsTer?
NM_014112.5:c.2725dup MANE Select NP_054831.2:p.Cys909LeufsTer?
Search 100 bp 5'
Search 100 bp 3'