Canonical Allele Identifier: CA658797961

Gene: MED13L

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:c.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