Canonical Allele Identifier: CA2522362218

Gene: MPL

Linked Data

• gnomAD v4: 1-43338661-TGAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338665_43338667del , CM000663.2:g.43338665_43338667del	GRCh38
NC_000001.10:g.43804336_43804338del , CM000663.1:g.43804336_43804338del	GRCh37
NC_000001.9:g.43576923_43576925del	NCBI36
NG_007525.1:g.5862_5864del , LRG_510:g.5862_5864del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.336_338del MANE Select	ENSP00000361548.3:p.Lys112del
ENST00000413998.7:c.315_317del	ENSP00000414004.3:p.Lys105del
ENST00000638732.1:n.336_338del
ENST00000372470.7:c.336_338del	ENSP00000361548.3:p.Lys112del
ENST00000413998.6:c.336_338del	ENSP00000414004.2:p.Lys112del
ENST00000612993.1:c.336_338del	ENSP00000480273.1:p.Lys112del
NM_005373.2:c.336_338del , LRG_510t1:c.336_338del	NP_005364.1:p.Lys112del
XM_011541478.1:c.315_317del	XP_011539780.1:p.Lys105del
XM_017001320.1:c.507_509del	XP_016856809.1:p.Lys169del
NM_005373.3:c.336_338del MANE Select	NP_005364.1:p.Lys112del