Canonical Allele Identifier: CA2586449996

Gene: MED25

Linked Data

• gnomAD v4: 19-49830543-C-CCTTGAATCCCTTCTCTCTGGGGTTGGCCATCCCTCCTGCTCTCAGTTGGGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49830543_49830544insCTTGAATCCCTTCTCTCTGGGGTTGGCCATCCCTCCTGCTCTCAGTTGGGGGT , CM000681.2:g.49830543_49830544insCTTGAATCCCTTCTCTCTGGGGTTGGCCATCCCTCCTGCTCTCAGTTGGGGGT	GRCh38
NC_000019.9:g.50333800_50333801insCTTGAATCCCTTCTCTCTGGGGTTGGCCATCCCTCCTGCTCTCAGTTGGGGGT , CM000681.1:g.50333800_50333801insCTTGAATCCCTTCTCTCTGGGGTTGGCCATCCCTCCTGCTCTCAGTTGGGGGT	GRCh37
NC_000019.8:g.55025612_55025613insCTTGAATCCCTTCTCTCTGGGGTTGGCCATCCCTCCTGCTCTCAGTTGGGGGT	NCBI36
NG_017091.1:g.17265_17266insCTTGAATCCCTTCTCTCTGGGGTTGGCCATCCCTCCTGCTCTCAGTTGGGGGT , LRG_368:g.17265_17266insCTTGAATCCCTTCTCTCTGGGGTTGGCCATCCCTCCTGCTCTCAGTTGGGGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593767.3:c.852_853insCTTGAATCCCTTCTCTCTGGGGTTGGCCATCCCTCCTGCTCTCAGTTGGGGGT	ENSP00000470692.3:p.Ala285LeufsTer?
ENST00000312865.10:c.852_853insCTTGAATCCCTTCTCTCTGGGGTTGGCCATCCCTCCTGCTCTCAGTTGGGGGT MANE Select	ENSP00000326767.5:p.Ala285LeufsTer?
ENST00000538643.5:c.213_214insCTTGAATCCCTTCTCTCTGGGGTTGGCCATCCCTCCTGCTCTCAGTTGGGGGT	ENSP00000437496.1:p.Ala72LeufsTer?
ENST00000595185.5:c.688+595_688+596insCTTGAATCCCTTCTCTCTGGGGTTGGCCATCCCTCCTGCTCTCAGTTGGGGGT	ENSP00000470027.1:n.688+595_688+596insCTTGAATCCCTTCTCTCTGGGGT...
ENST00000612791.4:c.761+381_761+382insCTTGAATCCCTTCTCTCTGGGGTTGGCCATCCCTCCTGCTCTCAGTTGGGGGT	ENSP00000479851.1:n.761+381_761+382insCTTGAATCCCTTCTCTCTGGGGT...
ENST00000612854.4:c.450+1528_450+1529insCTTGAATCCCTTCTCTCTGGGGTTGGCCATCCCTCCTGCTCTCAGTTGGGGGT	ENSP00000482155.1:n.450+1528_450+1529insCTTGAATCCCTTCTCTCTGGG...
ENST00000617849.4:c.158-196_158-195insCTTGAATCCCTTCTCTCTGGGGTTGGCCATCCCTCCTGCTCTCAGTTGGGGGT	ENSP00000484882.1:n.158-196_158-195insCTTGAATCCCTTCTCTCTGGGGT...
ENST00000618715.4:c.158-195_158-194insCTTGAATCCCTTCTCTCTGGGGTTGGCCATCCCTCCTGCTCTCAGTTGGGGGT	ENSP00000480731.1:n.158-195_158-194insCTTGAATCCCTTCTCTCTGGGGT...
ENST00000620467.4:c.852_853insCTTGAATCCCTTCTCTCTGGGGTTGGCCATCCCTCCTGCTCTCAGTTGGGGGT	ENSP00000482659.1:p.Ala285LeufsTer?
ENST00000622402.4:c.146-5284_146-5283insCTTGAATCCCTTCTCTCTGGGGTTGGCCATCCCTCCTGCTCTCAGTTGGGGGT	ENSP00000478074.1:n.146-5284_146-5283insCTTGAATCCCTTCTCTCTGGG...
NM_030973.3:c.852_853insCTTGAATCCCTTCTCTCTGGGGTTGGCCATCCCTCCTGCTCTCAGTTGGGGGT , LRG_368t1:c.852_853insCTTGAATCCCTTCTCTCTGGGGTTGGCCATCCCTCCTGCTCTCAGTTGGGGGT	NP_112235.2:p.Ala285LeufsTer?
XM_011527353.1:c.852_853insCTTGAATCCCTTCTCTCTGGGGTTGGCCATCCCTCCTGCTCTCAGTTGGGGGT	XP_011525655.1:p.Ala285LeufsTer?
NM_001378355.1:c.852_853insCTTGAATCCCTTCTCTCTGGGGTTGGCCATCCCTCCTGCTCTCAGTTGGGGGT	NP_001365284.1:p.Ala285LeufsTer?
NM_030973.4:c.852_853insCTTGAATCCCTTCTCTCTGGGGTTGGCCATCCCTCCTGCTCTCAGTTGGGGGT MANE Select	NP_112235.2:p.Ala285LeufsTer?