Canonical Allele Identifier: CA2695217458

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116022494_116022498dup , CM000674.2:g.116022494_116022498dup	GRCh38
NC_000012.11:g.116460299_116460303dup , CM000674.1:g.116460299_116460303dup	GRCh37
NC_000012.10:g.114944682_114944686dup	NCBI36
NG_023366.1:g.259689_259693dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.583_587dup MANE Select	ENSP00000281928.3:p.His196GlnfsTer18
ENST00000548743.2:c.553_557dup	ENSP00000448553.2:p.His186GlnfsTer18
ENST00000549786.2:c.11_15dup
ENST00000647567.1:c.493_497dup	ENSP00000497136.1:p.His166GlnfsTer18
ENST00000648737.1:n.347_351dup
ENST00000650226.1:c.583_587dup	ENSP00000496981.1:p.His196GlnfsTer18
ENST00000281928.7:c.583_587dup	ENSP00000281928.3:p.His196GlnfsTer18
NM_015335.4:c.583_587dup	NP_056150.1:p.His196GlnfsTer18
XM_011538080.1:c.583_587dup	XP_011536382.1:p.His196GlnfsTer18
XM_011538081.1:c.583_587dup	XP_011536383.1:p.His196GlnfsTer18
XM_011538082.1:c.553_557dup	XP_011536384.1:p.His186GlnfsTer18
XM_011538080.2:c.583_587dup	XP_011536382.1:p.His196GlnfsTer18
XM_011538081.2:c.583_587dup	XP_011536383.1:p.His196GlnfsTer18
XM_011538082.2:c.553_557dup	XP_011536384.1:p.His186GlnfsTer18
XM_017019090.1:c.583_587dup	XP_016874579.1:p.His196GlnfsTer18
NM_015335.5:c.583_587dup MANE Select	NP_056150.1:p.His196GlnfsTer18