Canonical Allele Identifier: CA2697551532

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2687879
• ClinVar RCV Id: RCV003492903

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991496del , CM000674.2:g.115991496del	GRCh38
NC_000012.11:g.116429301del , CM000674.1:g.116429301del	GRCh37
NC_000012.10:g.114913684del	NCBI36
NG_023366.1:g.290692del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3459del MANE Select	ENSP00000281928.3:p.Asn1154MetfsTer15
ENST00000549786.2:c.2887del
ENST00000648379.1:n.1827del
ENST00000648737.1:n.3223del
ENST00000648825.1:n.199del
ENST00000648916.1:n.1470del
ENST00000649607.1:c.1643del
ENST00000650226.1:c.3459del	ENSP00000496981.1:p.Asn1154MetfsTer15
ENST00000281928.7:c.3459del	ENSP00000281928.3:p.Asn1154MetfsTer15
NM_015335.4:c.3459del	NP_056150.1:p.Asn1154MetfsTer15
XM_011538080.1:c.3459del	XP_011536382.1:p.Asn1154MetfsTer15
XM_011538081.1:c.3456del	XP_011536383.1:p.Asn1153MetfsTer15
XM_011538082.1:c.3429del	XP_011536384.1:p.Asn1144MetfsTer15
XM_011538080.2:c.3459del	XP_011536382.1:p.Asn1154MetfsTer15
XM_011538081.2:c.3456del	XP_011536383.1:p.Asn1153MetfsTer15
XM_011538082.2:c.3429del	XP_011536384.1:p.Asn1144MetfsTer15
XM_017019090.1:c.3456del	XP_016874579.1:p.Asn1153MetfsTer15
NM_015335.5:c.3459del MANE Select	NP_056150.1:p.Asn1154MetfsTer15