Canonical Allele Identifier: CA160816

Gene: MPL

Linked Data

• ClinVar Variation Id: 134822
• ClinVar RCV Id: RCV000121536 ; RCV000503692 ; RCV000818190 ; RCV002281948 ; RCV002498569
• dbSNP Id: rs587778514
• ExAC: 1:43804234 CCT / C
• gnomAD v2: 1-43804234-CCT-C
• gnomAD v3: 1-43338563-CCT-C
• gnomAD v4: 1-43338563-CCT-C
• MyVariant Identifiers: chr1:g.43804235_43804236del (hg19) ; chr1:g.43338564_43338565del (hg38)
• PubMed: PMID:11133753 ; PMID:16470591 ; PMID:17666371 ; PMID:24728327 ; PMID:27418648

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338564_43338565del , CM000663.2:g.43338564_43338565del	GRCh38
NC_000001.10:g.43804235_43804236del , CM000663.1:g.43804235_43804236del	GRCh37
NC_000001.9:g.43576822_43576823del	NCBI36
NG_007525.1:g.5761_5762del , LRG_510:g.5761_5762del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.235_236del MANE Select	ENSP00000361548.3:p.Leu79GlufsTer?
ENST00000413998.7:c.214_215del	ENSP00000414004.3:p.Leu72GlufsTer?
ENST00000638732.1:n.235_236del
ENST00000372470.7:c.235_236del	ENSP00000361548.3:p.Leu79GlufsTer?
ENST00000413998.6:c.235_236del	ENSP00000414004.2:p.Leu79GlufsTer?
ENST00000612993.1:c.235_236del	ENSP00000480273.1:p.Leu79GlufsTer?
NM_005373.2:c.235_236del , LRG_510t1:c.235_236del	NP_005364.1:p.Leu79GlufsTer?
XM_011541478.1:c.214_215del	XP_011539780.1:p.Leu72GlufsTer?
XM_017001320.1:c.406_407del	XP_016856809.1:p.Leu136GlufsTer?
NM_005373.3:c.235_236del MANE Select	NP_005364.1:p.Leu79GlufsTer?