Canonical Allele Identifier: CA522806115

Gene: MPL

Linked Data

• dbSNP Id: rs1448793590
• gnomAD v2: 1-43804309-CTT-C
• gnomAD v4: 1-43338638-CTT-C
• MyVariant Identifiers: chr1:g.43804310_43804311del (hg19) ; chr1:g.43338639_43338640del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338639_43338640del , CM000663.2:g.43338639_43338640del	GRCh38
NC_000001.10:g.43804310_43804311del , CM000663.1:g.43804310_43804311del	GRCh37
NC_000001.9:g.43576897_43576898del	NCBI36
NG_007525.1:g.5836_5837del , LRG_510:g.5836_5837del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.310_311del MANE Select	ENSP00000361548.3:p.Phe104LeufsTer?
ENST00000413998.7:c.289_290del	ENSP00000414004.3:p.Phe97LeufsTer?
ENST00000638732.1:n.310_311del
ENST00000372470.7:c.310_311del	ENSP00000361548.3:p.Phe104LeufsTer?
ENST00000413998.6:c.310_311del	ENSP00000414004.2:p.Phe104LeufsTer?
ENST00000612993.1:c.310_311del	ENSP00000480273.1:p.Phe104LeufsTer?
NM_005373.2:c.310_311del , LRG_510t1:c.310_311del	NP_005364.1:p.Phe104LeufsTer?
XM_011541478.1:c.289_290del	XP_011539780.1:p.Phe97LeufsTer?
XM_017001320.1:c.481_482del	XP_016856809.1:p.Phe161LeufsTer?
NM_005373.3:c.310_311del MANE Select	NP_005364.1:p.Phe104LeufsTer?