Canonical Allele Identifier: CA2740090652

Gene: MPL

Linked Data

• ClinVar Variation Id: 2954398
• ClinVar RCV Id: RCV003813621

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338607_43338614dup , CM000663.2:g.43338607_43338614dup	GRCh38
NC_000001.10:g.43804278_43804285dup , CM000663.1:g.43804278_43804285dup	GRCh37
NC_000001.9:g.43576865_43576872dup	NCBI36
NG_007525.1:g.5804_5811dup , LRG_510:g.5804_5811dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000372470.9:c.278_285dup MANE Select	ENSP00000361548.3:p.Pro96AlafsTer19
ENST00000413998.7:c.257_264dup	ENSP00000414004.3:p.Pro89AlafsTer19
ENST00000638732.1:n.278_285dup
ENST00000372470.7:c.278_285dup	ENSP00000361548.3:p.Pro96AlafsTer19
ENST00000413998.6:c.278_285dup	ENSP00000414004.2:p.Pro96AlafsTer19
ENST00000612993.1:c.278_285dup	ENSP00000480273.1:p.Pro96AlafsTer19
NM_005373.2:c.278_285dup , LRG_510t1:c.278_285dup	NP_005364.1:p.Pro96AlafsTer19
XM_011541478.1:c.257_264dup	XP_011539780.1:p.Pro89AlafsTer19
XM_017001320.1:c.449_456dup	XP_016856809.1:p.Pro153AlafsTer19
NM_005373.3:c.278_285dup MANE Select	NP_005364.1:p.Pro96AlafsTer19