Canonical Allele Identifier: CA2065397473
Gene: MED13L HGNC NCBI

Linked Data

dbSNP Id: rs1878483013

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115997546del , CM000674.2:g.115997546del GRCh38
NC_000012.11:g.116435351del , CM000674.1:g.116435351del GRCh37
NC_000012.10:g.114919734del NCBI36
NG_023366.1:g.284643del

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.2570-314del MANE Select ENSP00000281928.3:n.2570-314del
ENST00000548743.2:c.2540-314del ENSP00000448553.2:n.2540-314del
ENST00000549786.2:c.1998-314del
ENST00000647927.1:n.2629del
ENST00000648173.1:n.1365-314del
ENST00000648379.1:n.938-314del
ENST00000648737.1:n.2334-314del
ENST00000648916.1:n.581-314del
ENST00000649607.1:c.757-317del
ENST00000650226.1:c.2570-314del ENSP00000496981.1:n.2570-314del
ENST00000281928.7:c.2570-314del ENSP00000281928.3:n.2570-314del
NM_015335.4:c.2570-314del NP_056150.1:n.2570-314del
XM_011538080.1:c.2570-314del XP_011536382.1:n.2570-314del
XM_011538081.1:c.2570-317del XP_011536383.1:n.2570-317del
XM_011538082.1:c.2540-314del XP_011536384.1:n.2540-314del
XM_011538080.2:c.2570-314del XP_011536382.1:n.2570-314del
XM_011538081.2:c.2570-317del XP_011536383.1:n.2570-317del
XM_011538082.2:c.2540-314del XP_011536384.1:n.2540-314del
XM_017019090.1:c.2570-317del XP_016874579.1:n.2570-317del
NM_015335.5:c.2570-314del MANE Select NP_056150.1:n.2570-314del