Canonical Allele Identifier: CA2621141568

Gene: MED13L

Linked Data

• gnomAD v4: 12-115982629-GCACAAAATAAATATAAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982630_115982646del , CM000674.2:g.115982630_115982646del	GRCh38
NC_000012.11:g.116420435_116420451del , CM000674.1:g.116420435_116420451del	GRCh37
NC_000012.10:g.114904818_114904834del	NCBI36
NG_023366.1:g.299541_299557del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4956-43_4956-27del MANE Select	ENSP00000281928.3:n.4956-43_4956-27del
ENST00000549786.2:c.4384-43_4384-27del
ENST00000648379.1:n.3324-43_3324-27del
ENST00000648737.1:n.4720-43_4720-27del
ENST00000648825.1:n.1696-43_1696-27del
ENST00000648916.1:n.2967-43_2967-27del
ENST00000649146.1:n.2156_2172del
ENST00000649607.1:c.3140-43_3140-27del
ENST00000649775.1:c.1453-51_1453-35del
ENST00000650226.1:c.4956-43_4956-27del	ENSP00000496981.1:n.4956-43_4956-27del
ENST00000281928.7:c.4956-43_4956-27del	ENSP00000281928.3:n.4956-43_4956-27del
ENST00000549786.1:c.320-43_320-27del
NM_015335.4:c.4956-43_4956-27del	NP_056150.1:n.4956-43_4956-27del
XM_011538080.1:c.4956-43_4956-27del	XP_011536382.1:n.4956-43_4956-27del
XM_011538081.1:c.4953-43_4953-27del	XP_011536383.1:n.4953-43_4953-27del
XM_011538082.1:c.4926-43_4926-27del	XP_011536384.1:n.4926-43_4926-27del
XM_011538080.2:c.4956-43_4956-27del	XP_011536382.1:n.4956-43_4956-27del
XM_011538081.2:c.4953-43_4953-27del	XP_011536383.1:n.4953-43_4953-27del
XM_011538082.2:c.4926-43_4926-27del	XP_011536384.1:n.4926-43_4926-27del
XM_017019090.1:c.4953-43_4953-27del	XP_016874579.1:n.4953-43_4953-27del
NM_015335.5:c.4956-43_4956-27del MANE Select	NP_056150.1:n.4956-43_4956-27del