Canonical Allele Identifier: CA2065372461

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982920_115982923delinsTTCA , CM000674.2:g.115982920_115982923delinsTTCA	GRCh38
NC_000012.11:g.116420725_116420728delinsTTCA , CM000674.1:g.116420725_116420728delinsTTCA	GRCh37
NC_000012.10:g.114905108_114905111delinsTTCA	NCBI36
NG_023366.1:g.299264_299267delinsTGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4955+194_4955+197delinsTGAA MANE Select	ENSP00000281928.3:n.4955+194_4955+197delinsTGAA
ENST00000549786.2:c.4383+194_4383+197delinsTGAA
ENST00000648379.1:n.3323+194_3323+197delinsTGAA
ENST00000648737.1:n.4719+194_4719+197delinsTGAA
ENST00000648825.1:n.1695+194_1695+197delinsTGAA
ENST00000648916.1:n.2966+194_2966+197delinsTGAA
ENST00000649146.1:n.1879_1882delinsTGAA
ENST00000649607.1:c.3139+194_3139+197delinsTGAA
ENST00000649775.1:c.1452+194_1452+197delinsTGAA
ENST00000650226.1:c.4955+194_4955+197delinsTGAA	ENSP00000496981.1:n.4955+194_4955+197delinsTGAA
ENST00000281928.7:c.4955+194_4955+197delinsTGAA	ENSP00000281928.3:n.4955+194_4955+197delinsTGAA
ENST00000549786.1:c.319+194_319+197delinsTGAA
NM_015335.4:c.4955+194_4955+197delinsTGAA	NP_056150.1:n.4955+194_4955+197delinsTGAA
XM_011538080.1:c.4955+194_4955+197delinsTGAA	XP_011536382.1:n.4955+194_4955+197delinsTGAA
XM_011538081.1:c.4952+194_4952+197delinsTGAA	XP_011536383.1:n.4952+194_4952+197delinsTGAA
XM_011538082.1:c.4925+194_4925+197delinsTGAA	XP_011536384.1:n.4925+194_4925+197delinsTGAA
XM_011538080.2:c.4955+194_4955+197delinsTGAA	XP_011536382.1:n.4955+194_4955+197delinsTGAA
XM_011538081.2:c.4952+194_4952+197delinsTGAA	XP_011536383.1:n.4952+194_4952+197delinsTGAA
XM_011538082.2:c.4925+194_4925+197delinsTGAA	XP_011536384.1:n.4925+194_4925+197delinsTGAA
XM_017019090.1:c.4952+194_4952+197delinsTGAA	XP_016874579.1:n.4952+194_4952+197delinsTGAA
NM_015335.5:c.4955+194_4955+197delinsTGAA MANE Select	NP_056150.1:n.4955+194_4955+197delinsTGAA