Canonical Allele Identifier: CA2340604857

Gene: MED25

Linked Data

• dbSNP Id: rs2074040931
• gnomAD v4: 19-49829858-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49829858_49829859insT , CM000681.2:g.49829858_49829859insT	GRCh38
NC_000019.9:g.50333115_50333116insT , CM000681.1:g.50333115_50333116insT	GRCh37
NC_000019.8:g.55024927_55024928insT	NCBI36
NG_017091.1:g.16580_16581insT , LRG_368:g.16580_16581insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593767.3:c.598_599insT	ENSP00000470692.3:p.Pro200LeufsTer?
ENST00000312865.10:c.598_599insT MANE Select	ENSP00000326767.5:p.Pro200LeufsTer?
ENST00000538643.5:c.181-653_181-652insT	ENSP00000437496.1:n.181-653_181-652insT
ENST00000595185.5:c.598_599insT	ENSP00000470027.1:p.Pro200LeufsTer?
ENST00000612791.4:c.598_599insT	ENSP00000479851.1:p.Pro200LeufsTer14
ENST00000612854.4:c.450+843_450+844insT	ENSP00000482155.1:n.450+843_450+844insT
ENST00000617849.4:c.158-881_158-880insT	ENSP00000484882.1:n.158-881_158-880insT
ENST00000618715.4:c.158-880_158-879insT	ENSP00000480731.1:n.158-880_158-879insT
ENST00000620467.4:c.598_599insT	ENSP00000482659.1:p.Pro200LeufsTer?
ENST00000622402.4:c.146-5969_146-5968insT	ENSP00000478074.1:n.146-5969_146-5968insT
NM_030973.3:c.598_599insT , LRG_368t1:c.598_599insT	NP_112235.2:p.Pro200LeufsTer?
XM_011527353.1:c.598_599insT	XP_011525655.1:p.Pro200LeufsTer?
NM_001378355.1:c.598_599insT	NP_001365284.1:p.Pro200LeufsTer?
NM_030973.4:c.598_599insT MANE Select	NP_112235.2:p.Pro200LeufsTer?