Canonical Allele Identifier: CA16619446
Gene: MED13L HGNC NCBI

Linked Data

ClinVar Variation Id: 419645
ClinVar RCV Id: RCV000478224
dbSNP Id: rs1064794013

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.116012893del , CM000674.2:g.116012893del GRCh38
NC_000012.11:g.116450698del , CM000674.1:g.116450698del GRCh37
NC_000012.10:g.114935081del NCBI36
NG_023366.1:g.269296del

Transcript Alleles

HGVS Amino-acid change
ENST00000281928.9:c.1186del MANE Select ENSP00000281928.3:p.Met396CysfsTer?
ENST00000548743.2:c.1156del ENSP00000448553.2:p.Met386CysfsTer?
ENST00000549786.2:c.614del
ENST00000647567.1:c.1093del ENSP00000497136.1:p.Met365CysfsTer?
ENST00000648737.1:n.950del
ENST00000650226.1:c.1186del ENSP00000496981.1:p.Met396CysfsTer?
ENST00000281928.7:c.1186del ENSP00000281928.3:p.Met396CysfsTer?
NM_015335.4:c.1186del NP_056150.1:p.Met396CysfsTer?
XM_011538080.1:c.1186del XP_011536382.1:p.Met396CysfsTer?
XM_011538081.1:c.1186del XP_011536383.1:p.Met396CysfsTer?
XM_011538082.1:c.1156del XP_011536384.1:p.Met386CysfsTer?
XM_011538080.2:c.1186del XP_011536382.1:p.Met396CysfsTer?
XM_011538081.2:c.1186del XP_011536383.1:p.Met396CysfsTer?
XM_011538082.2:c.1156del XP_011536384.1:p.Met386CysfsTer?
XM_017019090.1:c.1186del XP_016874579.1:p.Met396CysfsTer?
NM_015335.5:c.1186del MANE Select NP_056150.1:p.Met396CysfsTer?