Canonical Allele Identifier: CA2621142333

Gene: MED13L

Linked Data

• gnomAD v4: 12-115984514-CATTACAAGTTGGTCCTTTCAGGTAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984515_115984539del , CM000674.2:g.115984515_115984539del	GRCh38
NC_000012.11:g.116422320_116422344del , CM000674.1:g.116422320_116422344del	GRCh37
NC_000012.10:g.114906703_114906727del	NCBI36
NG_023366.1:g.297648_297672del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4339-167_4339-143del MANE Select	ENSP00000281928.3:n.4339-167_4339-143del
ENST00000549786.2:c.3767-167_3767-143del
ENST00000648379.1:n.2707-167_2707-143del
ENST00000648737.1:n.4103-167_4103-143del
ENST00000648825.1:n.1079-167_1079-143del
ENST00000648916.1:n.2350-167_2350-143del
ENST00000649146.1:n.902_926del
ENST00000649607.1:c.2523-167_2523-143del
ENST00000649775.1:c.836-167_836-143del
ENST00000650091.1:n.2315-167_2315-143del
ENST00000650226.1:c.4339-167_4339-143del	ENSP00000496981.1:n.4339-167_4339-143del
ENST00000281928.7:c.4339-167_4339-143del	ENSP00000281928.3:n.4339-167_4339-143del
NM_015335.4:c.4339-167_4339-143del	NP_056150.1:n.4339-167_4339-143del
XM_011538080.1:c.4339-167_4339-143del	XP_011536382.1:n.4339-167_4339-143del
XM_011538081.1:c.4336-167_4336-143del	XP_011536383.1:n.4336-167_4336-143del
XM_011538082.1:c.4309-167_4309-143del	XP_011536384.1:n.4309-167_4309-143del
XM_011538080.2:c.4339-167_4339-143del	XP_011536382.1:n.4339-167_4339-143del
XM_011538081.2:c.4336-167_4336-143del	XP_011536383.1:n.4336-167_4336-143del
XM_011538082.2:c.4309-167_4309-143del	XP_011536384.1:n.4309-167_4309-143del
XM_017019090.1:c.4336-167_4336-143del	XP_016874579.1:n.4336-167_4336-143del
NM_015335.5:c.4339-167_4339-143del MANE Select	NP_056150.1:n.4339-167_4339-143del