Canonical Allele Identifier: CA2621141555

Gene: MED13L

Linked Data

• gnomAD v4: 12-115982619-CTTGTGAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982620_115982626del , CM000674.2:g.115982620_115982626del	GRCh38
NC_000012.11:g.116420425_116420431del , CM000674.1:g.116420425_116420431del	GRCh37
NC_000012.10:g.114904808_114904814del	NCBI36
NG_023366.1:g.299561_299567del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4956-23_4956-17del MANE Select	ENSP00000281928.3:n.4956-23_4956-17del
ENST00000549786.2:c.4384-23_4384-17del
ENST00000648379.1:n.3324-23_3324-17del
ENST00000648737.1:n.4720-23_4720-17del
ENST00000648825.1:n.1696-23_1696-17del
ENST00000648916.1:n.2967-23_2967-17del
ENST00000649146.1:n.2176_2182del
ENST00000649607.1:c.3140-23_3140-17del
ENST00000649775.1:c.1453-31_1453-25del
ENST00000650226.1:c.4956-23_4956-17del	ENSP00000496981.1:n.4956-23_4956-17del
ENST00000281928.7:c.4956-23_4956-17del	ENSP00000281928.3:n.4956-23_4956-17del
ENST00000549786.1:c.320-23_320-17del
NM_015335.4:c.4956-23_4956-17del	NP_056150.1:n.4956-23_4956-17del
XM_011538080.1:c.4956-23_4956-17del	XP_011536382.1:n.4956-23_4956-17del
XM_011538081.1:c.4953-23_4953-17del	XP_011536383.1:n.4953-23_4953-17del
XM_011538082.1:c.4926-23_4926-17del	XP_011536384.1:n.4926-23_4926-17del
XM_011538080.2:c.4956-23_4956-17del	XP_011536382.1:n.4956-23_4956-17del
XM_011538081.2:c.4953-23_4953-17del	XP_011536383.1:n.4953-23_4953-17del
XM_011538082.2:c.4926-23_4926-17del	XP_011536384.1:n.4926-23_4926-17del
XM_017019090.1:c.4953-23_4953-17del	XP_016874579.1:n.4953-23_4953-17del
NM_015335.5:c.4956-23_4956-17del MANE Select	NP_056150.1:n.4956-23_4956-17del