Canonical Allele Identifier: CA2065372410
Gene: MED13L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115982884_115982885delinsGT , CM000674.2:g.115982884_115982885delinsGT GRCh38
NC_000012.11:g.116420689_116420690delinsGT , CM000674.1:g.116420689_116420690delinsGT GRCh37
NC_000012.10:g.114905072_114905073delinsGT NCBI36
NG_023366.1:g.299302_299303delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.4955+232_4955+233delinsAC MANE Select ENSP00000281928.3:n.4955+232_4955+233delinsAC
ENST00000549786.2:c.4383+232_4383+233delinsAC
ENST00000648379.1:n.3323+232_3323+233delinsAC
ENST00000648737.1:n.4719+232_4719+233delinsAC
ENST00000648825.1:n.1695+232_1695+233delinsAC
ENST00000648916.1:n.2966+232_2966+233delinsAC
ENST00000649146.1:n.1917_1918delinsAC
ENST00000649607.1:c.3139+232_3139+233delinsAC
ENST00000649775.1:c.1452+232_1452+233delinsAC
ENST00000650226.1:c.4955+232_4955+233delinsAC ENSP00000496981.1:n.4955+232_4955+233delinsAC
ENST00000281928.7:c.4955+232_4955+233delinsAC ENSP00000281928.3:n.4955+232_4955+233delinsAC
ENST00000549786.1:c.319+232_319+233delinsAC
NM_015335.4:c.4955+232_4955+233delinsAC NP_056150.1:n.4955+232_4955+233delinsAC
XM_011538080.1:c.4955+232_4955+233delinsAC XP_011536382.1:n.4955+232_4955+233delinsAC
XM_011538081.1:c.4952+232_4952+233delinsAC XP_011536383.1:n.4952+232_4952+233delinsAC
XM_011538082.1:c.4925+232_4925+233delinsAC XP_011536384.1:n.4925+232_4925+233delinsAC
XM_011538080.2:c.4955+232_4955+233delinsAC XP_011536382.1:n.4955+232_4955+233delinsAC
XM_011538081.2:c.4952+232_4952+233delinsAC XP_011536383.1:n.4952+232_4952+233delinsAC
XM_011538082.2:c.4925+232_4925+233delinsAC XP_011536384.1:n.4925+232_4925+233delinsAC
XM_017019090.1:c.4952+232_4952+233delinsAC XP_016874579.1:n.4952+232_4952+233delinsAC
NM_015335.5:c.4955+232_4955+233delinsAC MANE Select NP_056150.1:n.4955+232_4955+233delinsAC