Canonical Allele Identifier: CA2580085852

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2035565
• ClinVar RCV Id: RCV002890121

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991573del , CM000674.2:g.115991573del	GRCh38
NC_000012.11:g.116429378del , CM000674.1:g.116429378del	GRCh37
NC_000012.10:g.114913761del	NCBI36
NG_023366.1:g.290614del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3381del MANE Select	ENSP00000281928.3:p.Phe1128LeufsTer11
ENST00000549786.2:c.2809del
ENST00000648379.1:n.1749del
ENST00000648737.1:n.3145del
ENST00000648825.1:n.121del
ENST00000648916.1:n.1392del
ENST00000649607.1:c.1565del
ENST00000650226.1:c.3381del	ENSP00000496981.1:p.Phe1128LeufsTer11
ENST00000281928.7:c.3381del	ENSP00000281928.3:p.Phe1128LeufsTer11
NM_015335.4:c.3381del	NP_056150.1:p.Phe1128LeufsTer11
XM_011538080.1:c.3381del	XP_011536382.1:p.Phe1128LeufsTer11
XM_011538081.1:c.3378del	XP_011536383.1:p.Phe1127LeufsTer11
XM_011538082.1:c.3351del	XP_011536384.1:p.Phe1118LeufsTer11
XM_011538080.2:c.3381del	XP_011536382.1:p.Phe1128LeufsTer11
XM_011538081.2:c.3378del	XP_011536383.1:p.Phe1127LeufsTer11
XM_011538082.2:c.3351del	XP_011536384.1:p.Phe1118LeufsTer11
XM_017019090.1:c.3378del	XP_016874579.1:p.Phe1127LeufsTer11
NM_015335.5:c.3381del MANE Select	NP_056150.1:p.Phe1128LeufsTer11