Canonical Allele Identifier: CA806986

Gene: MPL

Linked Data

• ClinVar Variation Id: 632897
• ClinVar RCV Id: RCV000780429 ; RCV001248608 ; RCV002249480 ; RCV002487607
• dbSNP Id: rs755257605
• ExAC: 1:43817973 CG / C
• gnomAD v2: 1-43817973-CG-C
• gnomAD v3: 1-43352302-CG-C
• gnomAD v4: 1-43352302-CG-C
• MyVariant Identifiers: chr1:g.43817974del (hg19) ; chr1:g.43352303del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43352304del , CM000663.2:g.43352304del	GRCh38
NC_000001.10:g.43817975del , CM000663.1:g.43817975del	GRCh37
NC_000001.9:g.43590562del	NCBI36
NG_007525.1:g.19501del , LRG_510:g.19501del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.1653+1del
ENST00000413998.7:c.1632+1del
ENST00000643351.1:c.311+1del
ENST00000372470.7:c.1653+1del
NM_005373.2:c.1653+1del , LRG_510t1:c.1653+1del
XM_011541478.1:c.1632+1del
XM_017001320.1:c.1824+1del
NM_005373.3:c.1653+1del