Canonical Allele Identifier: CA2524468298
Gene: MED13L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115982354_115982355insTAAAA , CM000674.2:g.115982354_115982355insTAAAA GRCh38
NC_000012.11:g.116420159_116420160insTAAAA , CM000674.1:g.116420159_116420160insTAAAA GRCh37
NC_000012.10:g.114904542_114904543insTAAAA NCBI36
NG_023366.1:g.299834_299835insTTATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.5175+31_5175+32insTTATT MANE Select ENSP00000281928.3:n.5175+31_5175+32insTTATT
ENST00000549786.2:c.4634_4635insTTATT
ENST00000648379.1:n.3543+31_3543+32insTTATT
ENST00000648737.1:n.4939+31_4939+32insTTATT
ENST00000648825.1:n.1946_1947insTTATT
ENST00000648916.1:n.3186+31_3186+32insTTATT
ENST00000649146.1:n.2449_2450insTTATT
ENST00000649607.1:c.3359+31_3359+32insTTATT
ENST00000649775.1:c.1664+31_1664+32insTTATT
ENST00000650226.1:c.5175+31_5175+32insTTATT ENSP00000496981.1:n.5175+31_5175+32insTTATT
ENST00000281928.7:c.5175+31_5175+32insTTATT ENSP00000281928.3:n.5175+31_5175+32insTTATT
ENST00000549786.1:c.570_571insTTATT
ENST00000552340.1:c.207+31_207+32insTTATT ENSP00000449876.1:n.207+31_207+32insTTATT
NM_015335.4:c.5175+31_5175+32insTTATT NP_056150.1:n.5175+31_5175+32insTTATT
XM_011538080.1:c.5175+31_5175+32insTTATT XP_011536382.1:n.5175+31_5175+32insTTATT
XM_011538081.1:c.5172+31_5172+32insTTATT XP_011536383.1:n.5172+31_5172+32insTTATT
XM_011538082.1:c.5145+31_5145+32insTTATT XP_011536384.1:n.5145+31_5145+32insTTATT
XM_011538080.2:c.5175+31_5175+32insTTATT XP_011536382.1:n.5175+31_5175+32insTTATT
XM_011538081.2:c.5172+31_5172+32insTTATT XP_011536383.1:n.5172+31_5172+32insTTATT
XM_011538082.2:c.5145+31_5145+32insTTATT XP_011536384.1:n.5145+31_5145+32insTTATT
XM_017019090.1:c.5172+31_5172+32insTTATT XP_016874579.1:n.5172+31_5172+32insTTATT
NM_015335.5:c.5175+31_5175+32insTTATT MANE Select NP_056150.1:n.5175+31_5175+32insTTATT