Canonical Allele Identifier: CA244133067

Gene: MED13L

Linked Data

• dbSNP Id: rs138974494

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970664del , CM000674.2:g.115970664del	GRCh38
NC_000012.11:g.116408469del , CM000674.1:g.116408469del	GRCh37
NC_000012.10:g.114892852del	NCBI36
NG_023366.1:g.311525del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5999del MANE Select	ENSP00000281928.3:p.Pro2000GlnfsTer?
ENST00000548784.2:n.2213del
ENST00000648379.1:n.4367del
ENST00000648737.1:n.5763del
ENST00000648825.1:n.4184del
ENST00000648916.1:n.4010del
ENST00000649607.1:c.4183del
ENST00000649775.1:c.2488del
ENST00000650226.1:c.6035del	ENSP00000496981.1:p.Pro2012GlnfsTer?
ENST00000281928.7:c.5999del	ENSP00000281928.3:p.Pro2000GlnfsTer?
NM_015335.4:c.5999del	NP_056150.1:p.Pro2000GlnfsTer?
XM_011538080.1:c.6035del	XP_011536382.1:p.Pro2012GlnfsTer?
XM_011538081.1:c.6032del	XP_011536383.1:p.Pro2011GlnfsTer?
XM_011538082.1:c.6005del	XP_011536384.1:p.Pro2002GlnfsTer?
XM_011538080.2:c.6035del	XP_011536382.1:p.Pro2012GlnfsTer?
XM_011538081.2:c.6032del	XP_011536383.1:p.Pro2011GlnfsTer?
XM_011538082.2:c.6005del	XP_011536384.1:p.Pro2002GlnfsTer?
XM_017019090.1:c.5996del	XP_016874579.1:p.Pro1999GlnfsTer?
NM_015335.5:c.5999del MANE Select	NP_056150.1:p.Pro2000GlnfsTer?