Canonical Allele Identifier: CA2573051579

Gene: MPL

Linked Data

• ClinVar Variation Id: 1338502
• ClinVar RCV Id: RCV001817873 ; RCV003772340
• dbSNP Id: rs2153916498

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338642_43338645del , CM000663.2:g.43338642_43338645del	GRCh38
NC_000001.10:g.43804313_43804316del , CM000663.1:g.43804313_43804316del	GRCh37
NC_000001.9:g.43576900_43576903del	NCBI36
NG_007525.1:g.5839_5842del , LRG_510:g.5839_5842del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.313_316del MANE Select	ENSP00000361548.3:p.Phe105ArgfsTer6
ENST00000413998.7:c.292_295del	ENSP00000414004.3:p.Phe98ArgfsTer6
ENST00000638732.1:n.313_316del
ENST00000372470.7:c.313_316del	ENSP00000361548.3:p.Phe105ArgfsTer6
ENST00000413998.6:c.313_316del	ENSP00000414004.2:p.Phe105ArgfsTer6
ENST00000612993.1:c.313_316del	ENSP00000480273.1:p.Phe105ArgfsTer6
NM_005373.2:c.313_316del , LRG_510t1:c.313_316del	NP_005364.1:p.Phe105ArgfsTer6
XM_011541478.1:c.292_295del	XP_011539780.1:p.Phe98ArgfsTer6
XM_017001320.1:c.484_487del	XP_016856809.1:p.Phe162ArgfsTer6
NM_005373.3:c.313_316del MANE Select	NP_005364.1:p.Phe105ArgfsTer6