Canonical Allele Identifier: CA645372921

Gene: MED13L

Linked Data

• ClinVar Variation Id: 375612
• ClinVar RCV Id: RCV000497802
• dbSNP Id: rs1555243582
• MyVariant Identifiers: chr12:g.116422064del (hg19) ; chr12:g.115984259del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984261del , CM000674.2:g.115984261del	GRCh38
NC_000012.11:g.116422066del , CM000674.1:g.116422066del	GRCh37
NC_000012.10:g.114906449del	NCBI36
NG_023366.1:g.297928del

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.4452del MANE Select	ENSP00000281928.3:p.Phe1484LeufsTer27
ENST00000549786.2:c.3880del
ENST00000648379.1:n.2820del
ENST00000648737.1:n.4216del
ENST00000648825.1:n.1192del
ENST00000648916.1:n.2463del
ENST00000649146.1:n.1182del
ENST00000649607.1:c.2636del
ENST00000649775.1:c.949del
ENST00000650091.1:n.2428del
ENST00000650226.1:c.4452del	ENSP00000496981.1:p.Phe1484LeufsTer27
ENST00000281928.7:c.4452del	ENSP00000281928.3:p.Phe1484LeufsTer27
NM_015335.4:c.4452del	NP_056150.1:p.Phe1484LeufsTer27
XM_011538080.1:c.4452del	XP_011536382.1:p.Phe1484LeufsTer27
XM_011538081.1:c.4449del	XP_011536383.1:p.Phe1483LeufsTer27
XM_011538082.1:c.4422del	XP_011536384.1:p.Phe1474LeufsTer27
XM_011538080.2:c.4452del	XP_011536382.1:p.Phe1484LeufsTer27
XM_011538081.2:c.4449del	XP_011536383.1:p.Phe1483LeufsTer27
XM_011538082.2:c.4422del	XP_011536384.1:p.Phe1474LeufsTer27
XM_017019090.1:c.4449del	XP_016874579.1:p.Phe1483LeufsTer27
NM_015335.5:c.4452del MANE Select	NP_056150.1:p.Phe1484LeufsTer27