Canonical Allele Identifier: CA16042875
Gene: MED13L HGNC NCBI

Linked Data

ClinVar Variation Id: 373445
ClinVar RCV Id: RCV000414148
dbSNP Id: rs1057518424
MyVariant Identifiers: chr12:g.116446226dupT (hg19) chr12:g.116446225_116446226insT (hg19) chr12:g.116008421dupT (hg38) chr12:g.116008420_116008421insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.116008421dup , CM000674.2:g.116008421dup GRCh38
NC_000012.11:g.116446226dup , CM000674.1:g.116446226dup GRCh37
NC_000012.10:g.114930609dup NCBI36
NG_023366.1:g.273766dup

Transcript Alleles

HGVS Amino-acid change
ENST00000281928.9:c.1992dup MANE Select ENSP00000281928.3:p.Glu665ArgfsTer13
ENST00000548743.2:c.1962dup ENSP00000448553.2:p.Glu655ArgfsTer13
ENST00000549786.2:c.1420dup
ENST00000648737.1:n.1756dup
ENST00000649607.1:c.179dup
ENST00000649655.1:n.595dup
ENST00000649762.1:n.2552dup
ENST00000650226.1:c.1992dup ENSP00000496981.1:p.Glu665ArgfsTer13
ENST00000281928.7:c.1992dup ENSP00000281928.3:p.Glu665ArgfsTer13
ENST00000549755.1:n.725dup
NM_015335.4:c.1992dup NP_056150.1:p.Glu665ArgfsTer13
XM_011538080.1:c.1992dup XP_011536382.1:p.Glu665ArgfsTer13
XM_011538081.1:c.1992dup XP_011536383.1:p.Glu665ArgfsTer13
XM_011538082.1:c.1962dup XP_011536384.1:p.Glu655ArgfsTer13
XM_011538080.2:c.1992dup XP_011536382.1:p.Glu665ArgfsTer13
XM_011538081.2:c.1992dup XP_011536383.1:p.Glu665ArgfsTer13
XM_011538082.2:c.1962dup XP_011536384.1:p.Glu655ArgfsTer13
XM_017019090.1:c.1992dup XP_016874579.1:p.Glu665ArgfsTer13
NM_015335.5:c.1992dup MANE Select NP_056150.1:p.Glu665ArgfsTer13
Search 100 bp 5'
Search 100 bp 3'