Canonical Allele Identifier: CA2825002060

Gene: MED13L

Linked Data

• ClinVar Variation Id: 3236367
• ClinVar RCV Id: RCV004555743

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975517del , CM000674.2:g.115975517del	GRCh38
NC_000012.11:g.116413322del , CM000674.1:g.116413322del	GRCh37
NC_000012.10:g.114897705del	NCBI36
NG_023366.1:g.306670del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5586del MANE Select	ENSP00000281928.3:p.Asn1862LysfsTer23
ENST00000548694.2:n.375del
ENST00000648379.1:n.3954del
ENST00000648737.1:n.5350del
ENST00000648825.1:n.3771del
ENST00000648916.1:n.3597del
ENST00000649607.1:c.3770del
ENST00000649775.1:c.2075del
ENST00000650226.1:c.5586del	ENSP00000496981.1:p.Asn1862LysfsTer?
ENST00000281928.7:c.5586del	ENSP00000281928.3:p.Asn1862LysfsTer23
ENST00000548694.1:n.375del
ENST00000552447.1:c.163del
NM_015335.4:c.5586del	NP_056150.1:p.Asn1862LysfsTer23
XM_011538080.1:c.5586del	XP_011536382.1:p.Asn1862LysfsTer?
XM_011538081.1:c.5583del	XP_011536383.1:p.Asn1861LysfsTer?
XM_011538082.1:c.5556del	XP_011536384.1:p.Asn1852LysfsTer?
XM_011538080.2:c.5586del	XP_011536382.1:p.Asn1862LysfsTer?
XM_011538081.2:c.5583del	XP_011536383.1:p.Asn1861LysfsTer?
XM_011538082.2:c.5556del	XP_011536384.1:p.Asn1852LysfsTer?
XM_017019090.1:c.5583del	XP_016874579.1:p.Asn1861LysfsTer23
NM_015335.5:c.5586del MANE Select	NP_056150.1:p.Asn1862LysfsTer23