Canonical Allele Identifier: CA2065370522

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116006332del , CM000674.2:g.116006332del	GRCh38
NC_000012.11:g.116444137del , CM000674.1:g.116444137del	GRCh37
NC_000012.10:g.114928520del	NCBI36
NG_023366.1:g.275855del

Transcript Alleles

HGVS	Amino-acid Change
NM_015335.5:c.2318del MANE Select	NP_056150.1:p.Ser773LeufsTer28
ENST00000281928.9:c.2318del MANE Select	ENSP00000281928.3:p.Ser773LeufsTer28
NM_015335.4:c.2318del	NP_056150.1:p.Ser773LeufsTer28
ENST00000281928.7:c.2318del	ENSP00000281928.3:p.Ser773LeufsTer28
ENST00000548743.2:c.2288del	ENSP00000448553.2:p.Ser763LeufsTer28
ENST00000549786.2:c.1746del
ENST00000648173.1:n.1113del
ENST00000648737.1:n.2082del
ENST00000648916.1:n.17del
ENST00000649607.1:c.505del
ENST00000649655.1:n.1920del
ENST00000650226.1:c.2318del	ENSP00000496981.1:p.Ser773LeufsTer28
ENST00000650443.1:n.1334del
XM_011538080.1:c.2318del	XP_011536382.1:p.Ser773LeufsTer28
XM_011538080.2:c.2318del	XP_011536382.1:p.Ser773LeufsTer28
XM_011538081.1:c.2318del	XP_011536383.1:p.Ser773LeufsTer28
XM_011538081.2:c.2318del	XP_011536383.1:p.Ser773LeufsTer28
XM_011538082.1:c.2288del	XP_011536384.1:p.Ser763LeufsTer28
XM_011538082.2:c.2288del	XP_011536384.1:p.Ser763LeufsTer28
XM_017019090.1:c.2318del	XP_016874579.1:p.Ser773LeufsTer28