Canonical Allele Identifier: CA2580062794

Gene: MPL

Linked Data

• ClinVar Variation Id: 1725014
• ClinVar RCV Id: RCV002308073

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338680_43338681insTGTCTCTTATA , CM000663.2:g.43338680_43338681insTGTCTCTTATA	GRCh38
NC_000001.10:g.43804351_43804352insTGTCTCTTATA , CM000663.1:g.43804351_43804352insTGTCTCTTATA	GRCh37
NC_000001.9:g.43576938_43576939insTGTCTCTTATA	NCBI36
NG_007525.1:g.5877_5878insTGTCTCTTATA , LRG_510:g.5877_5878insTGTCTCTTATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.351_352insTGTCTCTTATA MANE Select	ENSP00000361548.3:p.Gln118CysfsTer17
ENST00000413998.7:c.330_331insTGTCTCTTATA	ENSP00000414004.3:p.Gln111CysfsTer17
ENST00000638732.1:n.351_352insTGTCTCTTATA
ENST00000372470.7:c.351_352insTGTCTCTTATA	ENSP00000361548.3:p.Gln118CysfsTer17
ENST00000413998.6:c.351_352insTGTCTCTTATA	ENSP00000414004.2:p.Gln118CysfsTer17
ENST00000612993.1:c.351_352insTGTCTCTTATA	ENSP00000480273.1:p.Gln118CysfsTer17
NM_005373.2:c.351_352insTGTCTCTTATA , LRG_510t1:c.351_352insTGTCTCTTATA	NP_005364.1:p.Gln118CysfsTer17
XM_011541478.1:c.330_331insTGTCTCTTATA	XP_011539780.1:p.Gln111CysfsTer17
XM_017001320.1:c.522_523insTGTCTCTTATA	XP_016856809.1:p.Gln175CysfsTer17
NM_005373.3:c.351_352insTGTCTCTTATA MANE Select	NP_005364.1:p.Gln118CysfsTer17