Canonical Allele Identifier: CA2065365745
Gene: MED13L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.116003309_116003310delinsCT , CM000674.2:g.116003309_116003310delinsCT GRCh38
NC_000012.11:g.116441114_116441115delinsCT , CM000674.1:g.116441114_116441115delinsCT GRCh37
NC_000012.10:g.114925497_114925498delinsCT NCBI36
NG_023366.1:g.278877_278878delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.2470-208_2470-207delinsAG MANE Select ENSP00000281928.3:n.2470-208_2470-207delinsAG
ENST00000548743.2:c.2440-208_2440-207delinsAG ENSP00000448553.2:n.2440-208_2440-207delinsAG
ENST00000549786.2:c.1898-208_1898-207delinsAG
ENST00000648173.1:n.1265-208_1265-207delinsAG
ENST00000648379.1:n.630_631delinsAG
ENST00000648737.1:n.2234-208_2234-207delinsAG
ENST00000648916.1:n.481-208_481-207delinsAG
ENST00000649607.1:c.657-208_657-207delinsAG
ENST00000650226.1:c.2470-208_2470-207delinsAG ENSP00000496981.1:n.2470-208_2470-207delinsAG
ENST00000281928.7:c.2470-208_2470-207delinsAG ENSP00000281928.3:n.2470-208_2470-207delinsAG
NM_015335.4:c.2470-208_2470-207delinsAG NP_056150.1:n.2470-208_2470-207delinsAG
XM_011538080.1:c.2470-208_2470-207delinsAG XP_011536382.1:n.2470-208_2470-207delinsAG
XM_011538081.1:c.2470-208_2470-207delinsAG XP_011536383.1:n.2470-208_2470-207delinsAG
XM_011538082.1:c.2440-208_2440-207delinsAG XP_011536384.1:n.2440-208_2440-207delinsAG
XM_011538080.2:c.2470-208_2470-207delinsAG XP_011536382.1:n.2470-208_2470-207delinsAG
XM_011538081.2:c.2470-208_2470-207delinsAG XP_011536383.1:n.2470-208_2470-207delinsAG
XM_011538082.2:c.2440-208_2440-207delinsAG XP_011536384.1:n.2440-208_2440-207delinsAG
XM_017019090.1:c.2470-208_2470-207delinsAG XP_016874579.1:n.2470-208_2470-207delinsAG
NM_015335.5:c.2470-208_2470-207delinsAG MANE Select NP_056150.1:n.2470-208_2470-207delinsAG