Canonical Allele Identifier: CA244155116
Gene: MED13L HGNC NCBI

Linked Data

dbSNP Id: rs1555246237

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115997611_115997612delinsC , CM000674.2:g.115997611_115997612delinsC GRCh38
NC_000012.11:g.116435416_116435417delinsC , CM000674.1:g.116435416_116435417delinsC GRCh37
NC_000012.10:g.114919799_114919800delinsC NCBI36
NG_023366.1:g.284575_284576delinsG

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.2570-382_2570-381delinsG MANE Select ENSP00000281928.3:n.2570-382_2570-381delinsG
ENST00000548743.2:c.2540-382_2540-381delinsG ENSP00000448553.2:n.2540-382_2540-381delinsG
ENST00000549786.2:c.1998-382_1998-381delinsG
ENST00000647927.1:n.2561_2562delinsG
ENST00000648173.1:n.1365-382_1365-381delinsG
ENST00000648379.1:n.938-382_938-381delinsG
ENST00000648737.1:n.2334-382_2334-381delinsG
ENST00000648916.1:n.581-382_581-381delinsG
ENST00000649607.1:c.757-385_757-384delinsG
ENST00000650226.1:c.2570-382_2570-381delinsG ENSP00000496981.1:n.2570-382_2570-381delinsG
ENST00000281928.7:c.2570-382_2570-381delinsG ENSP00000281928.3:n.2570-382_2570-381delinsG
NM_015335.4:c.2570-382_2570-381delinsG NP_056150.1:n.2570-382_2570-381delinsG
XM_011538080.1:c.2570-382_2570-381delinsG XP_011536382.1:n.2570-382_2570-381delinsG
XM_011538081.1:c.2570-385_2570-384delinsG XP_011536383.1:n.2570-385_2570-384delinsG
XM_011538082.1:c.2540-382_2540-381delinsG XP_011536384.1:n.2540-382_2540-381delinsG
XM_011538080.2:c.2570-382_2570-381delinsG XP_011536382.1:n.2570-382_2570-381delinsG
XM_011538081.2:c.2570-385_2570-384delinsG XP_011536383.1:n.2570-385_2570-384delinsG
XM_011538082.2:c.2540-382_2540-381delinsG XP_011536384.1:n.2540-382_2540-381delinsG
XM_017019090.1:c.2570-385_2570-384delinsG XP_016874579.1:n.2570-385_2570-384delinsG
NM_015335.5:c.2570-382_2570-381delinsG MANE Select NP_056150.1:n.2570-382_2570-381delinsG