Canonical Allele Identifier: CA633659110

Gene: MED25

Linked Data

• ClinVar Variation Id: 1988964
• ClinVar RCV Id: RCV002781571
• dbSNP Id: rs1311007404
• gnomAD v2: 19-50333760-AC-A
• gnomAD v4: 19-49830503-AC-A
• MyVariant Identifiers: chr19:g.50333761del (hg19) ; chr19:g.49830504del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49830506del , CM000681.2:g.49830506del	GRCh38
NC_000019.9:g.50333763del , CM000681.1:g.50333763del	GRCh37
NC_000019.8:g.55025575del	NCBI36
NG_017091.1:g.17228del , LRG_368:g.17228del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593767.3:c.820-5del	ENSP00000470692.3:n.820-5del
ENST00000312865.10:c.820-5del MANE Select	ENSP00000326767.5:n.820-5del
ENST00000538643.5:c.181-5del	ENSP00000437496.1:n.181-5del
ENST00000595185.5:c.688+558del	ENSP00000470027.1:n.688+558del
ENST00000612791.4:c.761+344del	ENSP00000479851.1:n.761+344del
ENST00000612854.4:c.450+1491del	ENSP00000482155.1:n.450+1491del
ENST00000617849.4:c.158-233del	ENSP00000484882.1:n.158-233del
ENST00000618715.4:c.158-232del	ENSP00000480731.1:n.158-232del
ENST00000620467.4:c.820-5del	ENSP00000482659.1:n.820-5del
ENST00000622402.4:c.146-5321del	ENSP00000478074.1:n.146-5321del
NM_030973.3:c.820-5del , LRG_368t1:c.820-5del	NP_112235.2:n.820-5del
XM_011527353.1:c.820-5del	XP_011525655.1:n.820-5del
NM_001378355.1:c.820-5del	NP_001365284.1:n.820-5del
NM_030973.4:c.820-5del MANE Select	NP_112235.2:n.820-5del