Canonical Allele Identifier: CA522805835

Gene: MPL

Linked Data

• dbSNP Id: rs1263784995
• gnomAD v2: 1-43814893-CGGCCCGGGTG-C
• gnomAD v4: 1-43349222-CGGCCCGGGTG-C
• MyVariant Identifiers: chr1:g.43814894_43814903del (hg19) ; chr1:g.43349223_43349232del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43349227_43349236del , CM000663.2:g.43349227_43349236del	GRCh38
NC_000001.10:g.43814898_43814907del , CM000663.1:g.43814898_43814907del	GRCh37
NC_000001.9:g.43587485_43587494del	NCBI36
NG_007525.1:g.16424_16433del , LRG_510:g.16424_16433del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.1469-36_1469-27del MANE Select	ENSP00000361548.3:n.1469-36_1469-27del
ENST00000413998.7:c.1448-36_1448-27del	ENSP00000414004.3:n.1448-36_1448-27del
ENST00000638732.1:n.1469-36_1469-27del
ENST00000372470.7:c.1469-36_1469-27del	ENSP00000361548.3:n.1469-36_1469-27del
ENST00000413998.6:c.1469-36_1469-27del	ENSP00000414004.2:n.1469-36_1469-27del
ENST00000612993.1:c.1469-36_1469-27del	ENSP00000480273.1:n.1469-36_1469-27del
NM_005373.2:c.1469-36_1469-27del , LRG_510t1:c.1469-36_1469-27del	NP_005364.1:n.1469-36_1469-27del
XM_011541478.1:c.1448-36_1448-27del	XP_011539780.1:n.1448-36_1448-27del
XM_017001320.1:c.1640-36_1640-27del	XP_016856809.1:n.1640-36_1640-27del
NM_005373.3:c.1469-36_1469-27del MANE Select	NP_005364.1:n.1469-36_1469-27del