Canonical Allele Identifier: CA2580085866

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2246696
• ClinVar RCV Id: RCV002743273

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997039del , CM000674.2:g.115997039del	GRCh38
NC_000012.11:g.116434844del , CM000674.1:g.116434844del	GRCh37
NC_000012.10:g.114919227del	NCBI36
NG_023366.1:g.285149del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2762del MANE Select	ENSP00000281928.3:p.Leu921Ter
ENST00000548743.2:c.2732del	ENSP00000448553.2:p.Leu911Ter
ENST00000549786.2:c.2190del
ENST00000647927.1:n.3135del
ENST00000648173.1:n.1557del
ENST00000648379.1:n.1130del
ENST00000648737.1:n.2526del
ENST00000648916.1:n.773del
ENST00000649607.1:c.946del
ENST00000650226.1:c.2762del	ENSP00000496981.1:p.Leu921Ter
ENST00000281928.7:c.2762del	ENSP00000281928.3:p.Leu921Ter
NM_015335.4:c.2762del	NP_056150.1:p.Leu921Ter
XM_011538080.1:c.2762del	XP_011536382.1:p.Leu921Ter
XM_011538081.1:c.2759del	XP_011536383.1:p.Leu920Ter
XM_011538082.1:c.2732del	XP_011536384.1:p.Leu911Ter
XM_011538080.2:c.2762del	XP_011536382.1:p.Leu921Ter
XM_011538081.2:c.2759del	XP_011536383.1:p.Leu920Ter
XM_011538082.2:c.2732del	XP_011536384.1:p.Leu911Ter
XM_017019090.1:c.2759del	XP_016874579.1:p.Leu920Ter
NM_015335.5:c.2762del MANE Select	NP_056150.1:p.Leu921Ter