Canonical Allele Identifier: CA2621141115

Gene: MED13L

Linked Data

• gnomAD v4: 12-115982205-TTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982213_115982214del , CM000674.2:g.115982213_115982214del	GRCh38
NC_000012.11:g.116420018_116420019del , CM000674.1:g.116420018_116420019del	GRCh37
NC_000012.10:g.114904401_114904402del	NCBI36
NG_023366.1:g.299980_299981del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5175+177_5175+178del MANE Select	ENSP00000281928.3:n.5175+177_5175+178del
ENST00000549786.2:c.4780_4781del
ENST00000648379.1:n.3543+177_3543+178del
ENST00000648737.1:n.4939+177_4939+178del
ENST00000648825.1:n.2092_2093del
ENST00000648916.1:n.3186+177_3186+178del
ENST00000649146.1:n.2595_2596del
ENST00000649607.1:c.3359+177_3359+178del
ENST00000649775.1:c.1664+177_1664+178del
ENST00000650226.1:c.5175+177_5175+178del	ENSP00000496981.1:n.5175+177_5175+178del
ENST00000281928.7:c.5175+177_5175+178del	ENSP00000281928.3:n.5175+177_5175+178del
ENST00000549786.1:c.716_717del
ENST00000552340.1:c.207+177_207+178del	ENSP00000449876.1:n.207+177_207+178del
NM_015335.4:c.5175+177_5175+178del	NP_056150.1:n.5175+177_5175+178del
XM_011538080.1:c.5175+177_5175+178del	XP_011536382.1:n.5175+177_5175+178del
XM_011538081.1:c.5172+177_5172+178del	XP_011536383.1:n.5172+177_5172+178del
XM_011538082.1:c.5145+177_5145+178del	XP_011536384.1:n.5145+177_5145+178del
XM_011538080.2:c.5175+177_5175+178del	XP_011536382.1:n.5175+177_5175+178del
XM_011538081.2:c.5172+177_5172+178del	XP_011536383.1:n.5172+177_5172+178del
XM_011538082.2:c.5145+177_5145+178del	XP_011536384.1:n.5145+177_5145+178del
XM_017019090.1:c.5172+177_5172+178del	XP_016874579.1:n.5172+177_5172+178del
NM_015335.5:c.5175+177_5175+178del MANE Select	NP_056150.1:n.5175+177_5175+178del