Canonical Allele Identifier: CA2065381591
Gene: MED13L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.116012890_116012891delinsAT , CM000674.2:g.116012890_116012891delinsAT GRCh38
NC_000012.11:g.116450695_116450696delinsAT , CM000674.1:g.116450695_116450696delinsAT GRCh37
NC_000012.10:g.114935078_114935079delinsAT NCBI36
NG_023366.1:g.269296_269297delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.1186_1187delinsAT MANE Select ENSP00000281928.3:p.Met396=
ENST00000548743.2:c.1156_1157delinsAT ENSP00000448553.2:p.Met386=
ENST00000549786.2:c.614_615delinsAT
ENST00000647567.1:c.1093_1094delinsAT ENSP00000497136.1:p.Met365=
ENST00000648737.1:n.950_951delinsAT
ENST00000650226.1:c.1186_1187delinsAT ENSP00000496981.1:p.Met396=
ENST00000281928.7:c.1186_1187delinsAT ENSP00000281928.3:p.Met396=
NM_015335.4:c.1186_1187delinsAT NP_056150.1:p.Met396=
XM_011538080.1:c.1186_1187delinsAT XP_011536382.1:p.Met396=
XM_011538081.1:c.1186_1187delinsAT XP_011536383.1:p.Met396=
XM_011538082.1:c.1156_1157delinsAT XP_011536384.1:p.Met386=
XM_011538080.2:c.1186_1187delinsAT XP_011536382.1:p.Met396=
XM_011538081.2:c.1186_1187delinsAT XP_011536383.1:p.Met396=
XM_011538082.2:c.1156_1157delinsAT XP_011536384.1:p.Met386=
XM_017019090.1:c.1186_1187delinsAT XP_016874579.1:p.Met396=
NM_015335.5:c.1186_1187delinsAT MANE Select NP_056150.1:p.Met396=