Canonical Allele Identifier: CA2580085871

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2039802
• ClinVar RCV Id: RCV002886033

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116022495_116022496delinsAA , CM000674.2:g.116022495_116022496delinsAA	GRCh38
NC_000012.11:g.116460300_116460301delinsAA , CM000674.1:g.116460300_116460301delinsAA	GRCh37
NC_000012.10:g.114944683_114944684delinsAA	NCBI36
NG_023366.1:g.259691_259692delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.585_586delinsTT MANE Select	ENSP00000281928.3:p.Glu195_His196delinsAspTyr
ENST00000548743.2:c.555_556delinsTT	ENSP00000448553.2:p.Glu185_His186delinsAspTyr
ENST00000549786.2:c.13_14delinsTT
ENST00000647567.1:c.495_496delinsTT	ENSP00000497136.1:p.Glu165_His166delinsAspTyr
ENST00000648737.1:n.349_350delinsTT
ENST00000650226.1:c.585_586delinsTT	ENSP00000496981.1:p.Glu195_His196delinsAspTyr
ENST00000281928.7:c.585_586delinsTT	ENSP00000281928.3:p.Glu195_His196delinsAspTyr
NM_015335.4:c.585_586delinsTT	NP_056150.1:p.Glu195_His196delinsAspTyr
XM_011538080.1:c.585_586delinsTT	XP_011536382.1:p.Glu195_His196delinsAspTyr
XM_011538081.1:c.585_586delinsTT	XP_011536383.1:p.Glu195_His196delinsAspTyr
XM_011538082.1:c.555_556delinsTT	XP_011536384.1:p.Glu185_His186delinsAspTyr
XM_011538080.2:c.585_586delinsTT	XP_011536382.1:p.Glu195_His196delinsAspTyr
XM_011538081.2:c.585_586delinsTT	XP_011536383.1:p.Glu195_His196delinsAspTyr
XM_011538082.2:c.555_556delinsTT	XP_011536384.1:p.Glu185_His186delinsAspTyr
XM_017019090.1:c.585_586delinsTT	XP_016874579.1:p.Glu195_His196delinsAspTyr
NM_015335.5:c.585_586delinsTT MANE Select	NP_056150.1:p.Glu195_His196delinsAspTyr