Canonical Allele Identifier: CA2573053608

Gene: MED13L

Linked Data

• ClinVar Variation Id: 1333985
• ClinVar RCV Id: RCV001809200
• dbSNP Id: rs2137278830

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984360del , CM000674.2:g.115984360del	GRCh38
NC_000012.11:g.116422165del , CM000674.1:g.116422165del	GRCh37
NC_000012.10:g.114906548del	NCBI36
NG_023366.1:g.297829del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4353del MANE Select	ENSP00000281928.3:p.Gln1452SerfsTer24
ENST00000549786.2:c.3781del
ENST00000648379.1:n.2721del
ENST00000648737.1:n.4117del
ENST00000648825.1:n.1093del
ENST00000648916.1:n.2364del
ENST00000649146.1:n.1083del
ENST00000649607.1:c.2537del
ENST00000649775.1:c.850del
ENST00000650091.1:n.2329del
ENST00000650226.1:c.4353del	ENSP00000496981.1:p.Gln1452SerfsTer24
ENST00000281928.7:c.4353del	ENSP00000281928.3:p.Gln1452SerfsTer24
NM_015335.4:c.4353del	NP_056150.1:p.Gln1452SerfsTer24
XM_011538080.1:c.4353del	XP_011536382.1:p.Gln1452SerfsTer24
XM_011538081.1:c.4350del	XP_011536383.1:p.Gln1451SerfsTer24
XM_011538082.1:c.4323del	XP_011536384.1:p.Gln1442SerfsTer24
XM_011538080.2:c.4353del	XP_011536382.1:p.Gln1452SerfsTer24
XM_011538081.2:c.4350del	XP_011536383.1:p.Gln1451SerfsTer24
XM_011538082.2:c.4323del	XP_011536384.1:p.Gln1442SerfsTer24
XM_017019090.1:c.4350del	XP_016874579.1:p.Gln1451SerfsTer24
NM_015335.5:c.4353del MANE Select	NP_056150.1:p.Gln1452SerfsTer24