Canonical Allele Identifier: CA522806113

Gene: MPL

Linked Data

• dbSNP Id: rs1422438596
• gnomAD v2: 1-43804296-AG-A
• gnomAD v4: 1-43338625-AG-A
• MyVariant Identifiers: chr1:g.43804297del (hg19) ; chr1:g.43338626del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338627del , CM000663.2:g.43338627del	GRCh38
NC_000001.10:g.43804298del , CM000663.1:g.43804298del	GRCh37
NC_000001.9:g.43576885del	NCBI36
NG_007525.1:g.5824del , LRG_510:g.5824del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.298del MANE Select	ENSP00000361548.3:p.Glu100LysfsTer12
ENST00000413998.7:c.277del	ENSP00000414004.3:p.Glu93LysfsTer12
ENST00000638732.1:n.298del
ENST00000372470.7:c.298del	ENSP00000361548.3:p.Glu100LysfsTer12
ENST00000413998.6:c.298del	ENSP00000414004.2:p.Glu100LysfsTer12
ENST00000612993.1:c.298del	ENSP00000480273.1:p.Glu100LysfsTer12
NM_005373.2:c.298del , LRG_510t1:c.298del	NP_005364.1:p.Glu100LysfsTer12
XM_011541478.1:c.277del	XP_011539780.1:p.Glu93LysfsTer12
XM_017001320.1:c.469del	XP_016856809.1:p.Glu157LysfsTer12
NM_005373.3:c.298del MANE Select	NP_005364.1:p.Glu100LysfsTer12