Canonical Allele Identifier: CA2065381139
Gene: MED13L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.116012601_116012602delinsAG , CM000674.2:g.116012601_116012602delinsAG GRCh38
NC_000012.11:g.116450406_116450407delinsAG , CM000674.1:g.116450406_116450407delinsAG GRCh37
NC_000012.10:g.114934789_114934790delinsAG NCBI36
NG_023366.1:g.269585_269586delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.1280+195_1280+196delinsCT MANE Select ENSP00000281928.3:n.1280+195_1280+196delinsCT
ENST00000548743.2:c.1250+195_1250+196delinsCT ENSP00000448553.2:n.1250+195_1250+196delinsCT
ENST00000549786.2:c.708+195_708+196delinsCT
ENST00000647567.1:c.1187+195_1187+196delinsCT ENSP00000497136.1:n.1187+195_1187+196delinsCT
ENST00000648737.1:n.1044+195_1044+196delinsCT
ENST00000650226.1:c.1280+195_1280+196delinsCT ENSP00000496981.1:n.1280+195_1280+196delinsCT
ENST00000281928.7:c.1280+195_1280+196delinsCT ENSP00000281928.3:n.1280+195_1280+196delinsCT
NM_015335.4:c.1280+195_1280+196delinsCT NP_056150.1:n.1280+195_1280+196delinsCT
XM_011538080.1:c.1280+195_1280+196delinsCT XP_011536382.1:n.1280+195_1280+196delinsCT
XM_011538081.1:c.1280+195_1280+196delinsCT XP_011536383.1:n.1280+195_1280+196delinsCT
XM_011538082.1:c.1250+195_1250+196delinsCT XP_011536384.1:n.1250+195_1250+196delinsCT
XM_011538080.2:c.1280+195_1280+196delinsCT XP_011536382.1:n.1280+195_1280+196delinsCT
XM_011538081.2:c.1280+195_1280+196delinsCT XP_011536383.1:n.1280+195_1280+196delinsCT
XM_011538082.2:c.1250+195_1250+196delinsCT XP_011536384.1:n.1250+195_1250+196delinsCT
XM_017019090.1:c.1280+195_1280+196delinsCT XP_016874579.1:n.1280+195_1280+196delinsCT
NM_015335.5:c.1280+195_1280+196delinsCT MANE Select NP_056150.1:n.1280+195_1280+196delinsCT