Canonical Allele Identifier: CA2580062804
Community Standard Title: NM_005373.3(MPL):c.432dup (p.Ser145GlufsTer19)
Gene: MPL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43339311dup , CM000663.2:g.43339311dup GRCh38
NC_000001.10:g.43804982dup , CM000663.1:g.43804982dup GRCh37
NC_000001.9:g.43577569dup NCBI36
NG_007525.1:g.6508dup , LRG_510:g.6508dup

Transcript Alleles

HGVS Amino-acid Change
NM_005373.3:c.432dup MANE Select NP_005364.1:p.Ser145GlufsTer19
ENST00000372470.9:c.432dup MANE Select ENSP00000361548.3:p.Ser145GlufsTer19
NM_005373.2:c.432dup , LRG_510t1:c.432dup NP_005364.1:p.Ser145GlufsTer19
ENST00000372470.7:c.432dup ENSP00000361548.3:p.Ser145GlufsTer19
ENST00000413998.6:c.432dup ENSP00000414004.2:p.Ser145GlufsTer19
ENST00000413998.7:c.411dup ENSP00000414004.3:p.Ser138GlufsTer19
ENST00000612993.1:c.432dup ENSP00000480273.1:p.Ser145GlufsTer19
ENST00000638732.1:n.432dup
XM_011541478.1:c.411dup XP_011539780.1:p.Ser138GlufsTer19
XM_017001320.1:c.603dup XP_016856809.1:p.Ser202GlufsTer19