Canonical Allele Identifier: CA2065372420

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982888_115982892delinsATAGT , CM000674.2:g.115982888_115982892delinsATAGT	GRCh38
NC_000012.11:g.116420693_116420697delinsATAGT , CM000674.1:g.116420693_116420697delinsATAGT	GRCh37
NC_000012.10:g.114905076_114905080delinsATAGT	NCBI36
NG_023366.1:g.299295_299299delinsACTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4955+225_4955+229delinsACTAT MANE Select	ENSP00000281928.3:n.4955+225_4955+229delinsACTAT
ENST00000549786.2:c.4383+225_4383+229delinsACTAT
ENST00000648379.1:n.3323+225_3323+229delinsACTAT
ENST00000648737.1:n.4719+225_4719+229delinsACTAT
ENST00000648825.1:n.1695+225_1695+229delinsACTAT
ENST00000648916.1:n.2966+225_2966+229delinsACTAT
ENST00000649146.1:n.1910_1914delinsACTAT
ENST00000649607.1:c.3139+225_3139+229delinsACTAT
ENST00000649775.1:c.1452+225_1452+229delinsACTAT
ENST00000650226.1:c.4955+225_4955+229delinsACTAT	ENSP00000496981.1:n.4955+225_4955+229delinsACTAT
ENST00000281928.7:c.4955+225_4955+229delinsACTAT	ENSP00000281928.3:n.4955+225_4955+229delinsACTAT
ENST00000549786.1:c.319+225_319+229delinsACTAT
NM_015335.4:c.4955+225_4955+229delinsACTAT	NP_056150.1:n.4955+225_4955+229delinsACTAT
XM_011538080.1:c.4955+225_4955+229delinsACTAT	XP_011536382.1:n.4955+225_4955+229delinsACTAT
XM_011538081.1:c.4952+225_4952+229delinsACTAT	XP_011536383.1:n.4952+225_4952+229delinsACTAT
XM_011538082.1:c.4925+225_4925+229delinsACTAT	XP_011536384.1:n.4925+225_4925+229delinsACTAT
XM_011538080.2:c.4955+225_4955+229delinsACTAT	XP_011536382.1:n.4955+225_4955+229delinsACTAT
XM_011538081.2:c.4952+225_4952+229delinsACTAT	XP_011536383.1:n.4952+225_4952+229delinsACTAT
XM_011538082.2:c.4925+225_4925+229delinsACTAT	XP_011536384.1:n.4925+225_4925+229delinsACTAT
XM_017019090.1:c.4952+225_4952+229delinsACTAT	XP_016874579.1:n.4952+225_4952+229delinsACTAT
NM_015335.5:c.4955+225_4955+229delinsACTAT MANE Select	NP_056150.1:n.4955+225_4955+229delinsACTAT