Canonical Allele Identifier: CA351498

Gene: MED13L

Linked Data

• ClinVar Variation Id: 221556
• ClinVar RCV Id: RCV000207025 ; RCV000224537
• dbSNP Id: rs869025287
• MyVariant Identifiers: chr12:g.116406845_116406852del (hg19) ; chr12:g.115969040_115969047del (hg38)
• PubMed: PMID:25167861

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115969045_115969052del , CM000674.2:g.115969045_115969052del	GRCh38
NC_000012.11:g.116406850_116406857del , CM000674.1:g.116406850_116406857del	GRCh37
NC_000012.10:g.114891233_114891240del	NCBI36
NG_023366.1:g.313140_313147del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.6118_6125del MANE Select	ENSP00000281928.3:p.Gly2040AsnfsTer?
ENST00000548784.2:n.2332_2339del
ENST00000648379.1:n.4486_4493del
ENST00000648737.1:n.5882_5889del
ENST00000648825.1:n.4303_4310del
ENST00000648916.1:n.4129_4136del
ENST00000649607.1:c.4302_4309del
ENST00000649775.1:c.2556+1547_2556+1554del
ENST00000650226.1:c.6154_6161del	ENSP00000496981.1:p.Gly2052AsnfsTer?
ENST00000281928.7:c.6118_6125del	ENSP00000281928.3:p.Gly2040AsnfsTer?
NM_015335.4:c.6118_6125del	NP_056150.1:p.Gly2040AsnfsTer?
XM_011538080.1:c.6154_6161del	XP_011536382.1:p.Gly2052AsnfsTer?
XM_011538081.1:c.6151_6158del	XP_011536383.1:p.Gly2051AsnfsTer?
XM_011538082.1:c.6124_6131del	XP_011536384.1:p.Gly2042AsnfsTer?
XM_011538080.2:c.6154_6161del	XP_011536382.1:p.Gly2052AsnfsTer?
XM_011538081.2:c.6151_6158del	XP_011536383.1:p.Gly2051AsnfsTer?
XM_011538082.2:c.6124_6131del	XP_011536384.1:p.Gly2042AsnfsTer?
XM_017019090.1:c.6115_6122del	XP_016874579.1:p.Gly2039AsnfsTer?
NM_015335.5:c.6118_6125del MANE Select	NP_056150.1:p.Gly2040AsnfsTer?