Canonical Allele Identifier: CA522805855

Gene: MPL

Linked Data

• dbSNP Id: rs1181866387
• gnomAD v2: 1-43814992-CCTG-C
• gnomAD v4: 1-43349321-CCTG-C
• COSMIC: COSM1723159 ; COSM5846738
• MyVariant Identifiers: chr1:g.43814993_43814995del (hg19) ; chr1:g.43349322_43349324del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43349331_43349333del , CM000663.2:g.43349331_43349333del	GRCh38
NC_000001.10:g.43815002_43815004del , CM000663.1:g.43815002_43815004del	GRCh37
NC_000001.9:g.43587589_43587591del	NCBI36
NG_007525.1:g.16528_16530del , LRG_510:g.16528_16530del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.1537_1539del MANE Select	ENSP00000361548.3:p.Leu513del
ENST00000413998.7:c.1516_1518del	ENSP00000414004.3:p.Leu506del
ENST00000638732.1:n.1537_1539del
ENST00000643351.1:c.69_71del
ENST00000372470.7:c.1537_1539del	ENSP00000361548.3:p.Leu513del
ENST00000413998.6:c.1537_1539del	ENSP00000414004.2:p.Leu513del
ENST00000612993.1:c.1537_1539del	ENSP00000480273.1:p.Leu513del
NM_005373.2:c.1537_1539del , LRG_510t1:c.1537_1539del	NP_005364.1:p.Leu513del
XM_011541478.1:c.1516_1518del	XP_011539780.1:p.Leu506del
XM_017001320.1:c.1708_1710del	XP_016856809.1:p.Leu570del
NM_005373.3:c.1537_1539del MANE Select	NP_005364.1:p.Leu513del