Canonical Allele Identifier: CA16042838

Gene: MED13L

Linked Data

• ClinVar Variation Id: 373164
• ClinVar RCV Id: RCV000413201
• dbSNP Id: rs1057518262
• MyVariant Identifiers: chr12:g.116421300del (hg19) ; chr12:g.115983495del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115983496del , CM000674.2:g.115983496del	GRCh38
NC_000012.11:g.116421301del , CM000674.1:g.116421301del	GRCh37
NC_000012.10:g.114905684del	NCBI36
NG_023366.1:g.298692del

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.4577del MANE Select	ENSP00000281928.3:p.Pro1526HisfsTer23
ENST00000549786.2:c.4005del
ENST00000648379.1:n.2945del
ENST00000648737.1:n.4341del
ENST00000648825.1:n.1317del
ENST00000648916.1:n.2588del
ENST00000649146.1:n.1307del
ENST00000649607.1:c.2761del
ENST00000649775.1:c.1074del
ENST00000650226.1:c.4577del	ENSP00000496981.1:p.Pro1526HisfsTer23
ENST00000281928.7:c.4577del	ENSP00000281928.3:p.Pro1526HisfsTer23
NM_015335.4:c.4577del	NP_056150.1:p.Pro1526HisfsTer23
XM_011538080.1:c.4577del	XP_011536382.1:p.Pro1526HisfsTer23
XM_011538081.1:c.4574del	XP_011536383.1:p.Pro1525HisfsTer23
XM_011538082.1:c.4547del	XP_011536384.1:p.Pro1516HisfsTer23
XM_011538080.2:c.4577del	XP_011536382.1:p.Pro1526HisfsTer23
XM_011538081.2:c.4574del	XP_011536383.1:p.Pro1525HisfsTer23
XM_011538082.2:c.4547del	XP_011536384.1:p.Pro1516HisfsTer23
XM_017019090.1:c.4574del	XP_016874579.1:p.Pro1525HisfsTer23
NM_015335.5:c.4577del MANE Select	NP_056150.1:p.Pro1526HisfsTer23