Canonical Allele Identifier: CA2580085860

Gene: MED13L

Linked Data

• ClinVar Variation Id: 1709184
• ClinVar RCV Id: RCV002288999

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991920del , CM000674.2:g.115991920del	GRCh38
NC_000012.11:g.116429725del , CM000674.1:g.116429725del	GRCh37
NC_000012.10:g.114914108del	NCBI36
NG_023366.1:g.290267del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3034del MANE Select	ENSP00000281928.3:p.Tyr1012IlefsTer2
ENST00000548743.2:c.3004del	ENSP00000448553.2:p.Tyr1002IlefsTer2
ENST00000549786.2:c.2462del
ENST00000648173.1:n.1829del
ENST00000648379.1:n.1402del
ENST00000648737.1:n.2798del
ENST00000648916.1:n.1045del
ENST00000649607.1:c.1218del
ENST00000650226.1:c.3034del	ENSP00000496981.1:p.Tyr1012IlefsTer2
ENST00000281928.7:c.3034del	ENSP00000281928.3:p.Tyr1012IlefsTer2
NM_015335.4:c.3034del	NP_056150.1:p.Tyr1012IlefsTer2
XM_011538080.1:c.3034del	XP_011536382.1:p.Tyr1012IlefsTer2
XM_011538081.1:c.3031del	XP_011536383.1:p.Tyr1011IlefsTer2
XM_011538082.1:c.3004del	XP_011536384.1:p.Tyr1002IlefsTer2
XM_011538080.2:c.3034del	XP_011536382.1:p.Tyr1012IlefsTer2
XM_011538081.2:c.3031del	XP_011536383.1:p.Tyr1011IlefsTer2
XM_011538082.2:c.3004del	XP_011536384.1:p.Tyr1002IlefsTer2
XM_017019090.1:c.3031del	XP_016874579.1:p.Tyr1011IlefsTer2
NM_015335.5:c.3034del MANE Select	NP_056150.1:p.Tyr1012IlefsTer2