Canonical Allele Identifier: CA2586449671

Gene: MED25

Linked Data

• gnomAD v4: 19-49829921-G-GTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49829924_49829926dup , CM000681.2:g.49829924_49829926dup	GRCh38
NC_000019.9:g.50333181_50333183dup , CM000681.1:g.50333181_50333183dup	GRCh37
NC_000019.8:g.55024993_55024995dup	NCBI36
NG_017091.1:g.16646_16648dup , LRG_368:g.16646_16648dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593767.3:c.664_666dup	ENSP00000470692.3:p.Leu222_Val223insLeu
ENST00000312865.10:c.664_666dup MANE Select	ENSP00000326767.5:p.Leu222_Val223insLeu
ENST00000538643.5:c.181-587_181-585dup	ENSP00000437496.1:n.181-587_181-585dup
ENST00000595185.5:c.664_666dup	ENSP00000470027.1:p.Leu222_Val223insLeu
ENST00000612791.4:c.662_664dup	ENSP00000479851.1:p.Ala221_Gly222insAla
ENST00000612854.4:c.450+909_450+911dup	ENSP00000482155.1:n.450+909_450+911dup
ENST00000617849.4:c.158-815_158-813dup	ENSP00000484882.1:n.158-815_158-813dup
ENST00000618715.4:c.158-814_158-812dup	ENSP00000480731.1:n.158-814_158-812dup
ENST00000620467.4:c.664_666dup	ENSP00000482659.1:p.Leu222_Val223insLeu
ENST00000622402.4:c.146-5903_146-5901dup	ENSP00000478074.1:n.146-5903_146-5901dup
NM_030973.3:c.664_666dup , LRG_368t1:c.664_666dup	NP_112235.2:p.Leu222_Val223insLeu
XM_011527353.1:c.664_666dup	XP_011525655.1:p.Leu222_Val223insLeu
NM_001378355.1:c.664_666dup	NP_001365284.1:p.Leu222_Val223insLeu
NM_030973.4:c.664_666dup MANE Select	NP_112235.2:p.Leu222_Val223insLeu