Canonical Allele Identifier: CA2621141107

Gene: MED13L

Linked Data

• gnomAD v4: 12-115982201-C-CCCATTATATATATGCAAATATTCCAAAATCGGAAATCCAAAACA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982203_115982246dup , CM000674.2:g.115982203_115982246dup	GRCh38
NC_000012.11:g.116420008_116420051dup , CM000674.1:g.116420008_116420051dup	GRCh37
NC_000012.10:g.114904391_114904434dup	NCBI36
NG_023366.1:g.299942_299985dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5175+139_5175+182dup MANE Select	ENSP00000281928.3:n.5175+139_5175+182dup
ENST00000549786.2:c.4742_4785dup
ENST00000648379.1:n.3543+139_3543+182dup
ENST00000648737.1:n.4939+139_4939+182dup
ENST00000648825.1:n.2054_2097dup
ENST00000648916.1:n.3186+139_3186+182dup
ENST00000649146.1:n.2557_2600dup
ENST00000649607.1:c.3359+139_3359+182dup
ENST00000649775.1:c.1664+139_1664+182dup
ENST00000650226.1:c.5175+139_5175+182dup	ENSP00000496981.1:n.5175+139_5175+182dup
ENST00000281928.7:c.5175+139_5175+182dup	ENSP00000281928.3:n.5175+139_5175+182dup
ENST00000549786.1:c.678_721dup
ENST00000552340.1:c.207+139_207+182dup	ENSP00000449876.1:n.207+139_207+182dup
NM_015335.4:c.5175+139_5175+182dup	NP_056150.1:n.5175+139_5175+182dup
XM_011538080.1:c.5175+139_5175+182dup	XP_011536382.1:n.5175+139_5175+182dup
XM_011538081.1:c.5172+139_5172+182dup	XP_011536383.1:n.5172+139_5172+182dup
XM_011538082.1:c.5145+139_5145+182dup	XP_011536384.1:n.5145+139_5145+182dup
XM_011538080.2:c.5175+139_5175+182dup	XP_011536382.1:n.5175+139_5175+182dup
XM_011538081.2:c.5172+139_5172+182dup	XP_011536383.1:n.5172+139_5172+182dup
XM_011538082.2:c.5145+139_5145+182dup	XP_011536384.1:n.5145+139_5145+182dup
XM_017019090.1:c.5172+139_5172+182dup	XP_016874579.1:n.5172+139_5172+182dup
NM_015335.5:c.5175+139_5175+182dup MANE Select	NP_056150.1:n.5175+139_5175+182dup