Canonical Allele Identifier: CA2065375685
Gene: MED13L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115984392_115984399delinsCATTAGTT , CM000674.2:g.115984392_115984399delinsCATTAGTT GRCh38
NC_000012.11:g.116422197_116422204delinsCATTAGTT , CM000674.1:g.116422197_116422204delinsCATTAGTT GRCh37
NC_000012.10:g.114906580_114906587delinsCATTAGTT NCBI36
NG_023366.1:g.297788_297795delinsAACTAATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.4339-27_4339-20delinsAACTAATG MANE Select ENSP00000281928.3:n.4339-27_4339-20delinsAACTAATG
ENST00000549786.2:c.3767-27_3767-20delinsAACTAATG
ENST00000648379.1:n.2707-27_2707-20delinsAACTAATG
ENST00000648737.1:n.4103-27_4103-20delinsAACTAATG
ENST00000648825.1:n.1079-27_1079-20delinsAACTAATG
ENST00000648916.1:n.2350-27_2350-20delinsAACTAATG
ENST00000649146.1:n.1042_1049delinsAACTAATG
ENST00000649607.1:c.2523-27_2523-20delinsAACTAATG
ENST00000649775.1:c.836-27_836-20delinsAACTAATG
ENST00000650091.1:n.2315-27_2315-20delinsAACTAATG
ENST00000650226.1:c.4339-27_4339-20delinsAACTAATG ENSP00000496981.1:n.4339-27_4339-20delinsAACTAATG
ENST00000281928.7:c.4339-27_4339-20delinsAACTAATG ENSP00000281928.3:n.4339-27_4339-20delinsAACTAATG
NM_015335.4:c.4339-27_4339-20delinsAACTAATG NP_056150.1:n.4339-27_4339-20delinsAACTAATG
XM_011538080.1:c.4339-27_4339-20delinsAACTAATG XP_011536382.1:n.4339-27_4339-20delinsAACTAATG
XM_011538081.1:c.4336-27_4336-20delinsAACTAATG XP_011536383.1:n.4336-27_4336-20delinsAACTAATG
XM_011538082.1:c.4309-27_4309-20delinsAACTAATG XP_011536384.1:n.4309-27_4309-20delinsAACTAATG
XM_011538080.2:c.4339-27_4339-20delinsAACTAATG XP_011536382.1:n.4339-27_4339-20delinsAACTAATG
XM_011538081.2:c.4336-27_4336-20delinsAACTAATG XP_011536383.1:n.4336-27_4336-20delinsAACTAATG
XM_011538082.2:c.4309-27_4309-20delinsAACTAATG XP_011536384.1:n.4309-27_4309-20delinsAACTAATG
XM_017019090.1:c.4336-27_4336-20delinsAACTAATG XP_016874579.1:n.4336-27_4336-20delinsAACTAATG
NM_015335.5:c.4339-27_4339-20delinsAACTAATG MANE Select NP_056150.1:n.4339-27_4339-20delinsAACTAATG