Canonical Allele Identifier: CA658797961
Gene: MED13L HGNC NCBI

Linked Data

ClinVar Variation Id: 520431
ClinVar RCV Id: RCV000624742
dbSNP Id: rs1555250044

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.116022564_116022565delinsAT , CM000674.2:g.116022564_116022565delinsAT GRCh38
NC_000012.11:g.116460369_116460370delinsAT , CM000674.1:g.116460369_116460370delinsAT GRCh37
NC_000012.10:g.114944752_114944753delinsAT NCBI36
NG_023366.1:g.259622_259623delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000281928.9:c.516_517delinsAT MANE Select ENSP00000281928.3:p.His172GlnfsTer2
ENST00000548743.2:c.486_487delinsAT ENSP00000448553.2:p.His162GlnfsTer2
ENST00000647567.1:n.426_427delinsAT ENSP00000497136.1:p.His142GlnfsTer2
ENST00000648737.1:n.280_281delinsAT
ENST00000650226.1:c.516_517delinsAT ENSP00000496981.1:p.His172GlnfsTer2
ENST00000281928.7:c.516_517delinsAT ENSP00000281928.3:p.His172GlnfsTer2
NM_015335.4:c.516_517delinsAT NP_056150.1:p.His172GlnfsTer2
XM_011538080.1:c.516_517delinsAT XP_011536382.1:p.His172GlnfsTer2
XM_011538081.1:c.516_517delinsAT XP_011536383.1:p.His172GlnfsTer2
XM_011538082.1:c.486_487delinsAT XP_011536384.1:p.His162GlnfsTer2
XM_011538080.2:c.516_517delinsAT XP_011536382.1:p.His172GlnfsTer2
XM_011538081.2:c.516_517delinsAT XP_011536383.1:p.His172GlnfsTer2
XM_011538082.2:c.486_487delinsAT XP_011536384.1:p.His162GlnfsTer2
XM_017019090.1:c.516_517delinsAT XP_016874579.1:p.His172GlnfsTer2
NM_015335.5:c.516_517delinsAT MANE Select NP_056150.1:p.His172GlnfsTer2