Canonical Allele Identifier: CA2621141100

Gene: MED13L

Linked Data

• gnomAD v4: 12-115982194-A-AAG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982195_115982196dup , CM000674.2:g.115982195_115982196dup	GRCh38
NC_000012.11:g.116420000_116420001dup , CM000674.1:g.116420000_116420001dup	GRCh37
NC_000012.10:g.114904383_114904384dup	NCBI36
NG_023366.1:g.299991_299992dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5175+188_5175+189dup MANE Select	ENSP00000281928.3:n.5175+188_5175+189dup
ENST00000549786.2:c.4791_4792dup
ENST00000648379.1:n.3543+188_3543+189dup
ENST00000648737.1:n.4939+188_4939+189dup
ENST00000648825.1:n.2103_2104dup
ENST00000648916.1:n.3186+188_3186+189dup
ENST00000649146.1:n.2606_2607dup
ENST00000649607.1:c.3359+188_3359+189dup
ENST00000649775.1:c.1664+188_1664+189dup
ENST00000650226.1:c.5175+188_5175+189dup	ENSP00000496981.1:n.5175+188_5175+189dup
ENST00000281928.7:c.5175+188_5175+189dup	ENSP00000281928.3:n.5175+188_5175+189dup
ENST00000549786.1:c.727_728dup
ENST00000552340.1:c.207+188_207+189dup	ENSP00000449876.1:n.207+188_207+189dup
NM_015335.4:c.5175+188_5175+189dup	NP_056150.1:n.5175+188_5175+189dup
XM_011538080.1:c.5175+188_5175+189dup	XP_011536382.1:n.5175+188_5175+189dup
XM_011538081.1:c.5172+188_5172+189dup	XP_011536383.1:n.5172+188_5172+189dup
XM_011538082.1:c.5145+188_5145+189dup	XP_011536384.1:n.5145+188_5145+189dup
XM_011538080.2:c.5175+188_5175+189dup	XP_011536382.1:n.5175+188_5175+189dup
XM_011538081.2:c.5172+188_5172+189dup	XP_011536383.1:n.5172+188_5172+189dup
XM_011538082.2:c.5145+188_5145+189dup	XP_011536384.1:n.5145+188_5145+189dup
XM_017019090.1:c.5172+188_5172+189dup	XP_016874579.1:n.5172+188_5172+189dup
NM_015335.5:c.5175+188_5175+189dup MANE Select	NP_056150.1:n.5175+188_5175+189dup