Canonical Allele Identifier: CA607650514

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2733002
• ClinVar RCV Id: RCV003499866
• dbSNP Id: rs950387382
• gnomAD v2: 12-116413135-T-TGGGGAA
• gnomAD v4: 12-115975330-T-TGGGGAA
• MyVariant Identifiers: chr12:g.116413135_116413136insGGGGAA (hg19) ; chr12:g.115975330_115975331insGGGGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975341_115975346dup , CM000674.2:g.115975341_115975346dup	GRCh38
NC_000012.11:g.116413146_116413151dup , CM000674.1:g.116413146_116413151dup	GRCh37
NC_000012.10:g.114897529_114897534dup	NCBI36
NG_023366.1:g.306851_306856dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5589-23_5589-18dup MANE Select	ENSP00000281928.3:n.5589-23_5589-18dup
ENST00000548694.2:n.556_561dup
ENST00000648379.1:n.3957-23_3957-18dup
ENST00000648737.1:n.5353-23_5353-18dup
ENST00000648825.1:n.3774-23_3774-18dup
ENST00000648916.1:n.3600-23_3600-18dup
ENST00000649607.1:c.3773-23_3773-18dup
ENST00000649775.1:c.2078-23_2078-18dup
ENST00000650226.1:c.5602_5607dup	ENSP00000496981.1:p.Pro1869_Ile1870insPhePro
ENST00000281928.7:c.5589-23_5589-18dup	ENSP00000281928.3:n.5589-23_5589-18dup
ENST00000548694.1:n.556_561dup
ENST00000552447.1:c.179_184dup
NM_015335.4:c.5589-23_5589-18dup	NP_056150.1:n.5589-23_5589-18dup
XM_011538080.1:c.5602_5607dup	XP_011536382.1:p.Pro1869_Ile1870insPhePro
XM_011538081.1:c.5599_5604dup	XP_011536383.1:p.Pro1868_Ile1869insPhePro
XM_011538082.1:c.5572_5577dup	XP_011536384.1:p.Pro1859_Ile1860insPhePro
XM_011538080.2:c.5602_5607dup	XP_011536382.1:p.Pro1869_Ile1870insPhePro
XM_011538081.2:c.5599_5604dup	XP_011536383.1:p.Pro1868_Ile1869insPhePro
XM_011538082.2:c.5572_5577dup	XP_011536384.1:p.Pro1859_Ile1860insPhePro
XM_017019090.1:c.5586-23_5586-18dup	XP_016874579.1:n.5586-23_5586-18dup
NM_015335.5:c.5589-23_5589-18dup MANE Select	NP_056150.1:n.5589-23_5589-18dup