Canonical Allele Identifier: CA919182205
Gene: MED13L HGNC NCBI

Linked Data

dbSNP Id: rs1592913268

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115982359_115982427del , CM000674.2:g.115982359_115982427del GRCh38
NC_000012.11:g.116420164_116420232del , CM000674.1:g.116420164_116420232del GRCh37
NC_000012.10:g.114904547_114904615del NCBI36
NG_023366.1:g.299760_299828del

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.5132_5175+25del
ENST00000549786.2:c.4560_4628del
ENST00000648379.1:n.3500_3543+25del
ENST00000648737.1:n.4896_4939+25del
ENST00000648825.1:n.1872_1940del
ENST00000648916.1:n.3143_3186+25del
ENST00000649146.1:n.2375_2443del
ENST00000649607.1:c.3316_3359+25del
ENST00000649775.1:c.1621_1664+25del
ENST00000650226.1:c.5132_5175+25del
ENST00000281928.7:c.5132_5175+25del
ENST00000549786.1:c.496_564del
ENST00000552340.1:c.164_207+25del
NM_015335.4:c.5132_5175+25del
XM_011538080.1:c.5132_5175+25del
XM_011538081.1:c.5129_5172+25del
XM_011538082.1:c.5102_5145+25del
XM_011538080.2:c.5132_5175+25del
XM_011538081.2:c.5129_5172+25del
XM_011538082.2:c.5102_5145+25del
XM_017019090.1:c.5129_5172+25del
NM_015335.5:c.5132_5175+25del