Canonical Allele Identifier: CA2580062796

Gene: MPL

Linked Data

• ClinVar Variation Id: 1724040
• ClinVar RCV Id: RCV002306595

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338694_43338695delinsT , CM000663.2:g.43338694_43338695delinsT	GRCh38
NC_000001.10:g.43804365_43804366delinsT , CM000663.1:g.43804365_43804366delinsT	GRCh37
NC_000001.9:g.43576952_43576953delinsT	NCBI36
NG_007525.1:g.5891_5892delinsT , LRG_510:g.5891_5892delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.365_366delinsT MANE Select	ENSP00000361548.3:p.Gln122LeufsTer9
ENST00000413998.7:c.344_345delinsT	ENSP00000414004.3:p.Gln115LeufsTer9
ENST00000638732.1:n.365_366delinsT
ENST00000372470.7:c.365_366delinsT	ENSP00000361548.3:p.Gln122LeufsTer9
ENST00000413998.6:c.365_366delinsT	ENSP00000414004.2:p.Gln122LeufsTer9
ENST00000612993.1:c.365_366delinsT	ENSP00000480273.1:p.Gln122LeufsTer9
NM_005373.2:c.365_366delinsT , LRG_510t1:c.365_366delinsT	NP_005364.1:p.Gln122LeufsTer9
XM_011541478.1:c.344_345delinsT	XP_011539780.1:p.Gln115LeufsTer9
XM_017001320.1:c.536_537delinsT	XP_016856809.1:p.Gln179LeufsTer9
NM_005373.3:c.365_366delinsT MANE Select	NP_005364.1:p.Gln122LeufsTer9