Canonical Allele Identifier: CA2065372099

Gene: MED13L

Linked Data

• dbSNP Id: rs1877411730

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982699del , CM000674.2:g.115982699del	GRCh38
NC_000012.11:g.116420504del , CM000674.1:g.116420504del	GRCh37
NC_000012.10:g.114904887del	NCBI36
NG_023366.1:g.299488del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4956-96del MANE Select	ENSP00000281928.3:n.4956-96del
ENST00000549786.2:c.4384-96del
ENST00000648379.1:n.3324-96del
ENST00000648737.1:n.4720-96del
ENST00000648825.1:n.1696-96del
ENST00000648916.1:n.2967-96del
ENST00000649146.1:n.2103del
ENST00000649607.1:c.3140-96del
ENST00000649775.1:c.1453-104del
ENST00000650226.1:c.4956-96del	ENSP00000496981.1:n.4956-96del
ENST00000281928.7:c.4956-96del	ENSP00000281928.3:n.4956-96del
ENST00000549786.1:c.320-96del
NM_015335.4:c.4956-96del	NP_056150.1:n.4956-96del
XM_011538080.1:c.4956-96del	XP_011536382.1:n.4956-96del
XM_011538081.1:c.4953-96del	XP_011536383.1:n.4953-96del
XM_011538082.1:c.4926-96del	XP_011536384.1:n.4926-96del
XM_011538080.2:c.4956-96del	XP_011536382.1:n.4956-96del
XM_011538081.2:c.4953-96del	XP_011536383.1:n.4953-96del
XM_011538082.2:c.4926-96del	XP_011536384.1:n.4926-96del
XM_017019090.1:c.4953-96del	XP_016874579.1:n.4953-96del
NM_015335.5:c.4956-96del MANE Select	NP_056150.1:n.4956-96del