Canonical Allele Identifier: CA16619440

Gene: MED13L

Linked Data

• ClinVar Variation Id: 418802
• ClinVar RCV Id: RCV000483420
• dbSNP Id: rs1555243086
• MyVariant Identifiers: chr12:g.116420281dupA (hg19) ; chr12:g.116420280_116420281insA (hg19) ; chr12:g.115982476dupA (hg38) ; chr12:g.115982475_115982476insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982477dup , CM000674.2:g.115982477dup	GRCh38
NC_000012.11:g.116420282dup , CM000674.1:g.116420282dup	GRCh37
NC_000012.10:g.114904665dup	NCBI36
NG_023366.1:g.299711dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5083dup MANE Select	ENSP00000281928.3:p.Ser1695PhefsTer19
ENST00000549786.2:c.4511dup
ENST00000648379.1:n.3451dup
ENST00000648737.1:n.4847dup
ENST00000648825.1:n.1823dup
ENST00000648916.1:n.3094dup
ENST00000649146.1:n.2326dup
ENST00000649607.1:c.3267dup
ENST00000649775.1:c.1572dup
ENST00000650226.1:c.5083dup	ENSP00000496981.1:p.Ser1695PhefsTer19
ENST00000281928.7:c.5083dup	ENSP00000281928.3:p.Ser1695PhefsTer19
ENST00000549786.1:c.447dup
ENST00000552340.1:c.115dup	ENSP00000449876.1:p.Ser39PhefsTer19
NM_015335.4:c.5083dup	NP_056150.1:p.Ser1695PhefsTer19
XM_011538080.1:c.5083dup	XP_011536382.1:p.Ser1695PhefsTer19
XM_011538081.1:c.5080dup	XP_011536383.1:p.Ser1694PhefsTer19
XM_011538082.1:c.5053dup	XP_011536384.1:p.Ser1685PhefsTer19
XM_011538080.2:c.5083dup	XP_011536382.1:p.Ser1695PhefsTer19
XM_011538081.2:c.5080dup	XP_011536383.1:p.Ser1694PhefsTer19
XM_011538082.2:c.5053dup	XP_011536384.1:p.Ser1685PhefsTer19
XM_017019090.1:c.5080dup	XP_016874579.1:p.Ser1694PhefsTer19
NM_015335.5:c.5083dup MANE Select	NP_056150.1:p.Ser1695PhefsTer19