Canonical Allele Identifier: CA16619441
Gene: MED13L HGNC NCBI

Linked Data

ClinVar Variation Id: 422943
ClinVar RCV Id: RCV000483089 RCV001265313
dbSNP Id: rs1064796113
MyVariant Identifiers: chr12:g.116421161del (hg19) chr12:g.115983356del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115983356del , CM000674.2:g.115983356del GRCh38
NC_000012.11:g.116421161del , CM000674.1:g.116421161del GRCh37
NC_000012.10:g.114905544del NCBI36
NG_023366.1:g.298831del

Transcript Alleles

HGVS Amino-acid change
ENST00000281928.9:c.4716del MANE Select ENSP00000281928.3:p.Pro1573LeufsTer27
ENST00000549786.2:c.4144del
ENST00000648379.1:n.3084del
ENST00000648737.1:n.4480del
ENST00000648825.1:n.1456del
ENST00000648916.1:n.2727del
ENST00000649146.1:n.1446del
ENST00000649607.1:c.2900del
ENST00000649775.1:c.1213del
ENST00000650226.1:c.4716del ENSP00000496981.1:p.Pro1573LeufsTer27
ENST00000281928.7:c.4716del ENSP00000281928.3:p.Pro1573LeufsTer27
ENST00000549786.1:c.80del
NM_015335.4:c.4716del NP_056150.1:p.Pro1573LeufsTer27
XM_011538080.1:c.4716del XP_011536382.1:p.Pro1573LeufsTer27
XM_011538081.1:c.4713del XP_011536383.1:p.Pro1572LeufsTer27
XM_011538082.1:c.4686del XP_011536384.1:p.Pro1563LeufsTer27
XM_011538080.2:c.4716del XP_011536382.1:p.Pro1573LeufsTer27
XM_011538081.2:c.4713del XP_011536383.1:p.Pro1572LeufsTer27
XM_011538082.2:c.4686del XP_011536384.1:p.Pro1563LeufsTer27
XM_017019090.1:c.4713del XP_016874579.1:p.Pro1572LeufsTer27
NM_015335.5:c.4716del MANE Select NP_056150.1:p.Pro1573LeufsTer27
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