Canonical Allele Identifier: CA952187411

Gene: MED13L

Linked Data

• dbSNP Id: rs1877426069
• gnomAD v3: 12-115982881-T-TAA
• gnomAD v4: 12-115982881-T-TAA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982882_115982883dup , CM000674.2:g.115982882_115982883dup	GRCh38
NC_000012.11:g.116420687_116420688dup , CM000674.1:g.116420687_116420688dup	GRCh37
NC_000012.10:g.114905070_114905071dup	NCBI36
NG_023366.1:g.299304_299305dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4955+234_4955+235dup MANE Select	ENSP00000281928.3:n.4955+234_4955+235dup
ENST00000549786.2:c.4383+234_4383+235dup
ENST00000648379.1:n.3323+234_3323+235dup
ENST00000648737.1:n.4719+234_4719+235dup
ENST00000648825.1:n.1695+234_1695+235dup
ENST00000648916.1:n.2966+234_2966+235dup
ENST00000649146.1:n.1919_1920dup
ENST00000649607.1:c.3139+234_3139+235dup
ENST00000649775.1:c.1452+234_1452+235dup
ENST00000650226.1:c.4955+234_4955+235dup	ENSP00000496981.1:n.4955+234_4955+235dup
ENST00000281928.7:c.4955+234_4955+235dup	ENSP00000281928.3:n.4955+234_4955+235dup
ENST00000549786.1:c.319+234_319+235dup
NM_015335.4:c.4955+234_4955+235dup	NP_056150.1:n.4955+234_4955+235dup
XM_011538080.1:c.4955+234_4955+235dup	XP_011536382.1:n.4955+234_4955+235dup
XM_011538081.1:c.4952+234_4952+235dup	XP_011536383.1:n.4952+234_4952+235dup
XM_011538082.1:c.4925+234_4925+235dup	XP_011536384.1:n.4925+234_4925+235dup
XM_011538080.2:c.4955+234_4955+235dup	XP_011536382.1:n.4955+234_4955+235dup
XM_011538081.2:c.4952+234_4952+235dup	XP_011536383.1:n.4952+234_4952+235dup
XM_011538082.2:c.4925+234_4925+235dup	XP_011536384.1:n.4925+234_4925+235dup
XM_017019090.1:c.4952+234_4952+235dup	XP_016874579.1:n.4952+234_4952+235dup
NM_015335.5:c.4955+234_4955+235dup MANE Select	NP_056150.1:n.4955+234_4955+235dup