Canonical Allele Identifier: CA2740090653

Gene: MPL

Linked Data

• ClinVar Variation Id: 2944172
• ClinVar RCV Id: RCV003805922

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338717_43338718del , CM000663.2:g.43338717_43338718del	GRCh38
NC_000001.10:g.43804388_43804389del , CM000663.1:g.43804388_43804389del	GRCh37
NC_000001.9:g.43576975_43576976del	NCBI36
NG_007525.1:g.5914_5915del , LRG_510:g.5914_5915del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.388_389del MANE Select	ENSP00000361548.3:p.Val130ArgfsTer?
ENST00000413998.7:c.367_368del	ENSP00000414004.3:p.Val123ArgfsTer?
ENST00000638732.1:n.388_389del
ENST00000372470.7:c.388_389del	ENSP00000361548.3:p.Val130ArgfsTer?
ENST00000413998.6:c.388_389del	ENSP00000414004.2:p.Val130ArgfsTer?
ENST00000612993.1:c.388_389del	ENSP00000480273.1:p.Val130ArgfsTer?
NM_005373.2:c.388_389del , LRG_510t1:c.388_389del	NP_005364.1:p.Val130ArgfsTer?
XM_011541478.1:c.367_368del	XP_011539780.1:p.Val123ArgfsTer?
XM_017001320.1:c.559_560del	XP_016856809.1:p.Val187ArgfsTer?
NM_005373.3:c.388_389del MANE Select	NP_005364.1:p.Val130ArgfsTer?