Canonical Allele Identifier: CA2645226576

Gene: MPL

Linked Data

• gnomAD v4: 1-43349307-AGCGCCGTCCTGGGCCTGCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43349310_43349328del , CM000663.2:g.43349310_43349328del	GRCh38
NC_000001.10:g.43814981_43814999del , CM000663.1:g.43814981_43814999del	GRCh37
NC_000001.9:g.43587568_43587586del	NCBI36
NG_007525.1:g.16507_16525del , LRG_510:g.16507_16525del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.1516_1534del MANE Select	ENSP00000361548.3:p.Ala506CysfsTer2
ENST00000413998.7:c.1495_1513del	ENSP00000414004.3:p.Ala499CysfsTer2
ENST00000638732.1:n.1516_1534del
ENST00000643351.1:c.48_66del
ENST00000372470.7:c.1516_1534del	ENSP00000361548.3:p.Ala506CysfsTer2
ENST00000413998.6:c.1516_1534del	ENSP00000414004.2:p.Ala506CysfsTer2
ENST00000612993.1:c.1516_1534del	ENSP00000480273.1:p.Ala506CysfsTer2
NM_005373.2:c.1516_1534del , LRG_510t1:c.1516_1534del	NP_005364.1:p.Ala506CysfsTer2
XM_011541478.1:c.1495_1513del	XP_011539780.1:p.Ala499CysfsTer2
XM_017001320.1:c.1687_1705del	XP_016856809.1:p.Ala563CysfsTer2
NM_005373.3:c.1516_1534del MANE Select	NP_005364.1:p.Ala506CysfsTer2