Canonical Allele Identifier: CA9584921

Gene: MED25

Linked Data

• ClinVar Variation Id: 1348787
• ClinVar RCV Id: RCV002035044
• dbSNP Id: rs748546983
• ExAC: 19:50333112 G / GC
• gnomAD v2: 19-50333112-G-GC
• gnomAD v3: 19-49829855-G-GC
• gnomAD v4: 19-49829855-G-GC
• COSMIC: COSM1395335 ; COSM1395336
• MyVariant Identifiers: chr19:g.50333113_50333114insC (hg19) ; chr19:g.50333112_50333113insC (hg19) ; chr19:g.49829856_49829857insC (hg38) ; chr19:g.49829855_49829856insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49829862dup , CM000681.2:g.49829862dup	GRCh38
NC_000019.9:g.50333119dup , CM000681.1:g.50333119dup	GRCh37
NC_000019.8:g.55024931dup	NCBI36
NG_017091.1:g.16584dup , LRG_368:g.16584dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593767.3:c.602dup	ENSP00000470692.3:p.Ala202GlyfsTer?
ENST00000312865.10:c.602dup MANE Select	ENSP00000326767.5:p.Ala202GlyfsTer?
ENST00000538643.5:c.181-649dup	ENSP00000437496.1:n.181-649dup
ENST00000595185.5:c.602dup	ENSP00000470027.1:p.Ala202GlyfsTer?
ENST00000612791.4:c.601-1dup
ENST00000612854.4:c.450+847dup	ENSP00000482155.1:n.450+847dup
ENST00000617849.4:c.158-877dup	ENSP00000484882.1:n.158-877dup
ENST00000618715.4:c.158-876dup	ENSP00000480731.1:n.158-876dup
ENST00000620467.4:c.602dup	ENSP00000482659.1:p.Ala202GlyfsTer?
ENST00000622402.4:c.146-5965dup	ENSP00000478074.1:n.146-5965dup
NM_030973.3:c.602dup , LRG_368t1:c.602dup	NP_112235.2:p.Ala202GlyfsTer?
XM_011527353.1:c.602dup	XP_011525655.1:p.Ala202GlyfsTer?
NM_001378355.1:c.602dup	NP_001365284.1:p.Ala202GlyfsTer?
NM_030973.4:c.602dup MANE Select	NP_112235.2:p.Ala202GlyfsTer?