Canonical Allele Identifier: CA645594748

Gene: MED13L

Linked Data

• COSMIC: COSM1257560

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116237660_116237661delinsTT , CM000674.2:g.116237660_116237661delinsTT	GRCh38
NC_000012.11:g.116675465_116675466delinsTT , CM000674.1:g.116675465_116675466delinsTT	GRCh37
NC_000012.10:g.115159848_115159849delinsTT	NCBI36
NG_023366.1:g.44526_44527delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.117_118delinsAA MANE Select	ENSP00000281928.3:p.His40Asn
ENST00000548743.2:c.87_88delinsAA	ENSP00000448553.2:p.His30Asn
ENST00000551197.2:c.67_68delinsAA
ENST00000647567.1:c.27_28delinsAA	ENSP00000497136.1:p.His10Asn
ENST00000650226.1:c.117_118delinsAA	ENSP00000496981.1:p.His40Asn
ENST00000650375.1:n.279_280delinsAA
ENST00000281928.7:c.117_118delinsAA	ENSP00000281928.3:p.His40Asn
ENST00000548743.1:c.87_88delinsAA	ENSP00000448553.1:p.His30Asn
ENST00000551197.1:n.67_68delinsAA
NM_015335.4:c.117_118delinsAA	NP_056150.1:p.His40Asn
XM_011538080.1:c.117_118delinsAA	XP_011536382.1:p.His40Asn
XM_011538081.1:c.117_118delinsAA	XP_011536383.1:p.His40Asn
XM_011538082.1:c.87_88delinsAA	XP_011536384.1:p.His30Asn
XM_011538080.2:c.117_118delinsAA	XP_011536382.1:p.His40Asn
XM_011538081.2:c.117_118delinsAA	XP_011536383.1:p.His40Asn
XM_011538082.2:c.87_88delinsAA	XP_011536384.1:p.His30Asn
XM_017019090.1:c.117_118delinsAA	XP_016874579.1:p.His40Asn
NM_015335.5:c.117_118delinsAA MANE Select	NP_056150.1:p.His40Asn