Canonical Allele Identifier: CA2065365283

Gene: MED13L

Linked Data

• dbSNP Id: rs1878841964

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116003052_116003058del , CM000674.2:g.116003052_116003058del	GRCh38
NC_000012.11:g.116440857_116440863del , CM000674.1:g.116440857_116440863del	GRCh37
NC_000012.10:g.114925240_114925246del	NCBI36
NG_023366.1:g.279132_279138del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2517_2523del MANE Select	ENSP00000281928.3:p.Glu840AspfsTer?
ENST00000548743.2:c.2487_2493del	ENSP00000448553.2:p.Glu830AspfsTer?
ENST00000549786.2:c.1945_1951del
ENST00000648173.1:n.1312_1318del
ENST00000648379.1:n.885_891del
ENST00000648737.1:n.2281_2287del
ENST00000648916.1:n.528_534del
ENST00000649607.1:c.704_710del
ENST00000650226.1:c.2517_2523del	ENSP00000496981.1:p.Glu840AspfsTer?
ENST00000281928.7:c.2517_2523del	ENSP00000281928.3:p.Glu840AspfsTer?
NM_015335.4:c.2517_2523del	NP_056150.1:p.Glu840AspfsTer?
XM_011538080.1:c.2517_2523del	XP_011536382.1:p.Glu840AspfsTer?
XM_011538081.1:c.2517_2523del	XP_011536383.1:p.Glu840AspfsTer?
XM_011538082.1:c.2487_2493del	XP_011536384.1:p.Glu830AspfsTer?
XM_011538080.2:c.2517_2523del	XP_011536382.1:p.Glu840AspfsTer?
XM_011538081.2:c.2517_2523del	XP_011536383.1:p.Glu840AspfsTer?
XM_011538082.2:c.2487_2493del	XP_011536384.1:p.Glu830AspfsTer?
XM_017019090.1:c.2517_2523del	XP_016874579.1:p.Glu840AspfsTer?
NM_015335.5:c.2517_2523del MANE Select	NP_056150.1:p.Glu840AspfsTer?