Canonical Allele Identifier: CA2621143313

Gene: MED13L

Linked Data

• gnomAD v4: 12-115970744-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970749del , CM000674.2:g.115970749del	GRCh38
NC_000012.11:g.116408554del , CM000674.1:g.116408554del	GRCh37
NC_000012.10:g.114892937del	NCBI36
NG_023366.1:g.311442del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5916del MANE Select	ENSP00000281928.3:p.Phe1972LeufsTer7
ENST00000548784.2:n.2130del
ENST00000648379.1:n.4284del
ENST00000648737.1:n.5680del
ENST00000648825.1:n.4101del
ENST00000648916.1:n.3927del
ENST00000649607.1:c.4100del
ENST00000649775.1:c.2405del
ENST00000650226.1:c.5952del	ENSP00000496981.1:p.Phe1984LeufsTer7
ENST00000281928.7:c.5916del	ENSP00000281928.3:p.Phe1972LeufsTer7
ENST00000548784.1:n.414del
ENST00000552447.1:c.529del
NM_015335.4:c.5916del	NP_056150.1:p.Phe1972LeufsTer7
XM_011538080.1:c.5952del	XP_011536382.1:p.Phe1984LeufsTer7
XM_011538081.1:c.5949del	XP_011536383.1:p.Phe1983LeufsTer7
XM_011538082.1:c.5922del	XP_011536384.1:p.Phe1974LeufsTer7
XM_011538080.2:c.5952del	XP_011536382.1:p.Phe1984LeufsTer7
XM_011538081.2:c.5949del	XP_011536383.1:p.Phe1983LeufsTer7
XM_011538082.2:c.5922del	XP_011536384.1:p.Phe1974LeufsTer7
XM_017019090.1:c.5913del	XP_016874579.1:p.Phe1971LeufsTer7
NM_015335.5:c.5916del MANE Select	NP_056150.1:p.Phe1972LeufsTer7