Canonical Allele Identifier: CA2621141920

Gene: MED13L

Linked Data

• gnomAD v4: 12-115983363-GAAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115983364_115983366del , CM000674.2:g.115983364_115983366del	GRCh38
NC_000012.11:g.116421169_116421171del , CM000674.1:g.116421169_116421171del	GRCh37
NC_000012.10:g.114905552_114905554del	NCBI36
NG_023366.1:g.298821_298823del

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.4706_4708del MANE Select	ENSP00000281928.3:p.Ser1569_Ser1570delinsThr
ENST00000549786.2:c.4134_4136del
ENST00000648379.1:n.3074_3076del
ENST00000648737.1:n.4470_4472del
ENST00000648825.1:n.1446_1448del
ENST00000648916.1:n.2717_2719del
ENST00000649146.1:n.1436_1438del
ENST00000649607.1:c.2890_2892del
ENST00000649775.1:c.1203_1205del
ENST00000650226.1:c.4706_4708del	ENSP00000496981.1:p.Ser1569_Ser1570delinsThr
ENST00000281928.7:c.4706_4708del	ENSP00000281928.3:p.Ser1569_Ser1570delinsThr
ENST00000549786.1:c.70_72del
NM_015335.4:c.4706_4708del	NP_056150.1:p.Ser1569_Ser1570delinsThr
XM_011538080.1:c.4706_4708del	XP_011536382.1:p.Ser1569_Ser1570delinsThr
XM_011538081.1:c.4703_4705del	XP_011536383.1:p.Ser1568_Ser1569delinsThr
XM_011538082.1:c.4676_4678del	XP_011536384.1:p.Ser1559_Ser1560delinsThr
XM_011538080.2:c.4706_4708del	XP_011536382.1:p.Ser1569_Ser1570delinsThr
XM_011538081.2:c.4703_4705del	XP_011536383.1:p.Ser1568_Ser1569delinsThr
XM_011538082.2:c.4676_4678del	XP_011536384.1:p.Ser1559_Ser1560delinsThr
XM_017019090.1:c.4703_4705del	XP_016874579.1:p.Ser1568_Ser1569delinsThr
NM_015335.5:c.4706_4708del MANE Select	NP_056150.1:p.Ser1569_Ser1570delinsThr