Canonical Allele Identifier: CA2580617973

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2580165
• ClinVar RCV Id: RCV003329108

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115966141del , CM000674.2:g.115966141del	GRCh38
NC_000012.11:g.116403946del , CM000674.1:g.116403946del	GRCh37
NC_000012.10:g.114888329del	NCBI36
NG_023366.1:g.316049del

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.6331del MANE Select	ENSP00000281928.3:p.Gln2111SerfsTer18
ENST00000548784.2:n.2545del
ENST00000648379.1:n.4699del
ENST00000648737.1:n.6095del
ENST00000648762.1:n.1021del
ENST00000648825.1:n.4516del
ENST00000648916.1:n.4342del
ENST00000649607.1:c.4515del
ENST00000649775.1:c.2662del
ENST00000650226.1:c.6367del	ENSP00000496981.1:p.Gln2123SerfsTer18
ENST00000281928.7:c.6331del	ENSP00000281928.3:p.Gln2111SerfsTer18
NM_015335.4:c.6331del	NP_056150.1:p.Gln2111SerfsTer18
XM_011538080.1:c.6367del	XP_011536382.1:p.Gln2123SerfsTer18
XM_011538081.1:c.6364del	XP_011536383.1:p.Gln2122SerfsTer18
XM_011538082.1:c.6337del	XP_011536384.1:p.Gln2113SerfsTer18
XM_011538080.2:c.6367del	XP_011536382.1:p.Gln2123SerfsTer18
XM_011538081.2:c.6364del	XP_011536383.1:p.Gln2122SerfsTer18
XM_011538082.2:c.6337del	XP_011536384.1:p.Gln2113SerfsTer18
XM_017019090.1:c.6328del	XP_016874579.1:p.Gln2110SerfsTer18
NM_015335.5:c.6331del MANE Select	NP_056150.1:p.Gln2111SerfsTer18