Canonical Allele Identifier: CA2065372394

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982879_115982884delinsATTAAG , CM000674.2:g.115982879_115982884delinsATTAAG	GRCh38
NC_000012.11:g.116420684_116420689delinsATTAAG , CM000674.1:g.116420684_116420689delinsATTAAG	GRCh37
NC_000012.10:g.114905067_114905072delinsATTAAG	NCBI36
NG_023366.1:g.299303_299308delinsCTTAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4955+233_4955+238delinsCTTAAT MANE Select	ENSP00000281928.3:n.4955+233_4955+238delinsCTTAAT
ENST00000549786.2:c.4383+233_4383+238delinsCTTAAT
ENST00000648379.1:n.3323+233_3323+238delinsCTTAAT
ENST00000648737.1:n.4719+233_4719+238delinsCTTAAT
ENST00000648825.1:n.1695+233_1695+238delinsCTTAAT
ENST00000648916.1:n.2966+233_2966+238delinsCTTAAT
ENST00000649146.1:n.1918_1923delinsCTTAAT
ENST00000649607.1:c.3139+233_3139+238delinsCTTAAT
ENST00000649775.1:c.1452+233_1452+238delinsCTTAAT
ENST00000650226.1:c.4955+233_4955+238delinsCTTAAT	ENSP00000496981.1:n.4955+233_4955+238delinsCTTAAT
ENST00000281928.7:c.4955+233_4955+238delinsCTTAAT	ENSP00000281928.3:n.4955+233_4955+238delinsCTTAAT
ENST00000549786.1:c.319+233_319+238delinsCTTAAT
NM_015335.4:c.4955+233_4955+238delinsCTTAAT	NP_056150.1:n.4955+233_4955+238delinsCTTAAT
XM_011538080.1:c.4955+233_4955+238delinsCTTAAT	XP_011536382.1:n.4955+233_4955+238delinsCTTAAT
XM_011538081.1:c.4952+233_4952+238delinsCTTAAT	XP_011536383.1:n.4952+233_4952+238delinsCTTAAT
XM_011538082.1:c.4925+233_4925+238delinsCTTAAT	XP_011536384.1:n.4925+233_4925+238delinsCTTAAT
XM_011538080.2:c.4955+233_4955+238delinsCTTAAT	XP_011536382.1:n.4955+233_4955+238delinsCTTAAT
XM_011538081.2:c.4952+233_4952+238delinsCTTAAT	XP_011536383.1:n.4952+233_4952+238delinsCTTAAT
XM_011538082.2:c.4925+233_4925+238delinsCTTAAT	XP_011536384.1:n.4925+233_4925+238delinsCTTAAT
XM_017019090.1:c.4952+233_4952+238delinsCTTAAT	XP_016874579.1:n.4952+233_4952+238delinsCTTAAT
NM_015335.5:c.4955+233_4955+238delinsCTTAAT MANE Select	NP_056150.1:n.4955+233_4955+238delinsCTTAAT