Canonical Allele Identifier: CA2573053609

Gene: MED13L

Linked Data

• ClinVar Variation Id: 1333199
• ClinVar RCV Id: RCV001807886
• dbSNP Id: rs2137404791

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116012859dup , CM000674.2:g.116012859dup	GRCh38
NC_000012.11:g.116450664dup , CM000674.1:g.116450664dup	GRCh37
NC_000012.10:g.114935047dup	NCBI36
NG_023366.1:g.269328dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.1218dup MANE Select	ENSP00000281928.3:p.Ser407Ter
ENST00000548743.2:c.1188dup	ENSP00000448553.2:p.Ser397Ter
ENST00000549786.2:c.646dup
ENST00000647567.1:c.1125dup	ENSP00000497136.1:p.Ser376Ter
ENST00000648737.1:n.982dup
ENST00000650226.1:c.1218dup	ENSP00000496981.1:p.Ser407Ter
ENST00000281928.7:c.1218dup	ENSP00000281928.3:p.Ser407Ter
NM_015335.4:c.1218dup	NP_056150.1:p.Ser407Ter
XM_011538080.1:c.1218dup	XP_011536382.1:p.Ser407Ter
XM_011538081.1:c.1218dup	XP_011536383.1:p.Ser407Ter
XM_011538082.1:c.1188dup	XP_011536384.1:p.Ser397Ter
XM_011538080.2:c.1218dup	XP_011536382.1:p.Ser407Ter
XM_011538081.2:c.1218dup	XP_011536383.1:p.Ser407Ter
XM_011538082.2:c.1188dup	XP_011536384.1:p.Ser397Ter
XM_017019090.1:c.1218dup	XP_016874579.1:p.Ser407Ter
NM_015335.5:c.1218dup MANE Select	NP_056150.1:p.Ser407Ter