Canonical Allele Identifier: CA915946716

Gene: MED13L

Linked Data

• ClinVar Variation Id: 738172
• ClinVar RCV Id: RCV000914029
• dbSNP Id: rs1593196291

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116237714del , CM000674.2:g.116237714del	GRCh38
NC_000012.11:g.116675519del , CM000674.1:g.116675519del	GRCh37
NC_000012.10:g.115159902del	NCBI36
NG_023366.1:g.44477del

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.73-5del MANE Select	ENSP00000281928.3:n.73-5del
ENST00000548743.2:c.43-5del	ENSP00000448553.2:n.43-5del
ENST00000551197.2:c.23-5del
ENST00000650226.1:c.73-5del	ENSP00000496981.1:n.73-5del
ENST00000650375.1:n.235-5del
ENST00000281928.7:c.73-5del	ENSP00000281928.3:n.73-5del
ENST00000548743.1:c.43-5del	ENSP00000448553.1:n.43-5del
ENST00000551197.1:n.23-5del
NM_015335.4:c.73-5del	NP_056150.1:n.73-5del
XM_011538080.1:c.73-5del	XP_011536382.1:n.73-5del
XM_011538081.1:c.73-5del	XP_011536383.1:n.73-5del
XM_011538082.1:c.43-5del	XP_011536384.1:n.43-5del
XM_011538080.2:c.73-5del	XP_011536382.1:n.73-5del
XM_011538081.2:c.73-5del	XP_011536383.1:n.73-5del
XM_011538082.2:c.43-5del	XP_011536384.1:n.43-5del
XM_017019090.1:c.73-5del	XP_016874579.1:n.73-5del
NM_015335.5:c.73-5del MANE Select	NP_056150.1:n.73-5del