Canonical Allele Identifier: CA2065375799
Gene: MED13L HGNC NCBI

Linked Data

dbSNP Id: rs1877550598

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115984454_115984457del , CM000674.2:g.115984454_115984457del GRCh38
NC_000012.11:g.116422259_116422262del , CM000674.1:g.116422259_116422262del GRCh37
NC_000012.10:g.114906642_114906645del NCBI36
NG_023366.1:g.297730_297733del

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.4339-85_4339-82del MANE Select ENSP00000281928.3:n.4339-85_4339-82del
ENST00000549786.2:c.3767-85_3767-82del
ENST00000648379.1:n.2707-85_2707-82del
ENST00000648737.1:n.4103-85_4103-82del
ENST00000648825.1:n.1079-85_1079-82del
ENST00000648916.1:n.2350-85_2350-82del
ENST00000649146.1:n.984_987del
ENST00000649607.1:c.2523-85_2523-82del
ENST00000649775.1:c.836-85_836-82del
ENST00000650091.1:n.2315-85_2315-82del
ENST00000650226.1:c.4339-85_4339-82del ENSP00000496981.1:n.4339-85_4339-82del
ENST00000281928.7:c.4339-85_4339-82del ENSP00000281928.3:n.4339-85_4339-82del
NM_015335.4:c.4339-85_4339-82del NP_056150.1:n.4339-85_4339-82del
XM_011538080.1:c.4339-85_4339-82del XP_011536382.1:n.4339-85_4339-82del
XM_011538081.1:c.4336-85_4336-82del XP_011536383.1:n.4336-85_4336-82del
XM_011538082.1:c.4309-85_4309-82del XP_011536384.1:n.4309-85_4309-82del
XM_011538080.2:c.4339-85_4339-82del XP_011536382.1:n.4339-85_4339-82del
XM_011538081.2:c.4336-85_4336-82del XP_011536383.1:n.4336-85_4336-82del
XM_011538082.2:c.4309-85_4309-82del XP_011536384.1:n.4309-85_4309-82del
XM_017019090.1:c.4336-85_4336-82del XP_016874579.1:n.4336-85_4336-82del
NM_015335.5:c.4339-85_4339-82del MANE Select NP_056150.1:n.4339-85_4339-82del