Canonical Allele Identifier: CA684018408

Gene: MED13L

Linked Data

• dbSNP Id: rs1395695427
• MyVariant Identifiers: chr12:g.116420662del (hg19) ; chr12:g.115982857del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982857del , CM000674.2:g.115982857del	GRCh38
NC_000012.11:g.116420662del , CM000674.1:g.116420662del	GRCh37
NC_000012.10:g.114905045del	NCBI36
NG_023366.1:g.299330del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4956-254del MANE Select	ENSP00000281928.3:n.4956-254del
ENST00000549786.2:c.4384-254del
ENST00000648379.1:n.3324-254del
ENST00000648737.1:n.4720-254del
ENST00000648825.1:n.1696-254del
ENST00000648916.1:n.2967-254del
ENST00000649146.1:n.1945del
ENST00000649607.1:c.3140-254del
ENST00000649775.1:c.1452+260del
ENST00000650226.1:c.4956-254del	ENSP00000496981.1:n.4956-254del
ENST00000281928.7:c.4956-254del	ENSP00000281928.3:n.4956-254del
ENST00000549786.1:c.320-254del
NM_015335.4:c.4956-254del	NP_056150.1:n.4956-254del
XM_011538080.1:c.4956-254del	XP_011536382.1:n.4956-254del
XM_011538081.1:c.4953-254del	XP_011536383.1:n.4953-254del
XM_011538082.1:c.4926-254del	XP_011536384.1:n.4926-254del
XM_011538080.2:c.4956-254del	XP_011536382.1:n.4956-254del
XM_011538081.2:c.4953-254del	XP_011536383.1:n.4953-254del
XM_011538082.2:c.4926-254del	XP_011536384.1:n.4926-254del
XM_017019090.1:c.4953-254del	XP_016874579.1:n.4953-254del
NM_015335.5:c.4956-254del MANE Select	NP_056150.1:n.4956-254del