Canonical Allele Identifier: CA952187404

Gene: MED13L

Linked Data

• dbSNP Id: rs1877422459
• gnomAD v3: 12-115982838-CCCTTT-C
• gnomAD v4: 12-115982838-CCCTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982840_115982844del , CM000674.2:g.115982840_115982844del	GRCh38
NC_000012.11:g.116420645_116420649del , CM000674.1:g.116420645_116420649del	GRCh37
NC_000012.10:g.114905028_114905032del	NCBI36
NG_023366.1:g.299344_299348del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4956-240_4956-236del MANE Select	ENSP00000281928.3:n.4956-240_4956-236del
ENST00000549786.2:c.4384-240_4384-236del
ENST00000648379.1:n.3324-240_3324-236del
ENST00000648737.1:n.4720-240_4720-236del
ENST00000648825.1:n.1696-240_1696-236del
ENST00000648916.1:n.2967-240_2967-236del
ENST00000649146.1:n.1959_1963del
ENST00000649607.1:c.3140-240_3140-236del
ENST00000649775.1:c.1453-248_1453-244del
ENST00000650226.1:c.4956-240_4956-236del	ENSP00000496981.1:n.4956-240_4956-236del
ENST00000281928.7:c.4956-240_4956-236del	ENSP00000281928.3:n.4956-240_4956-236del
ENST00000549786.1:c.320-240_320-236del
NM_015335.4:c.4956-240_4956-236del	NP_056150.1:n.4956-240_4956-236del
XM_011538080.1:c.4956-240_4956-236del	XP_011536382.1:n.4956-240_4956-236del
XM_011538081.1:c.4953-240_4953-236del	XP_011536383.1:n.4953-240_4953-236del
XM_011538082.1:c.4926-240_4926-236del	XP_011536384.1:n.4926-240_4926-236del
XM_011538080.2:c.4956-240_4956-236del	XP_011536382.1:n.4956-240_4956-236del
XM_011538081.2:c.4953-240_4953-236del	XP_011536383.1:n.4953-240_4953-236del
XM_011538082.2:c.4926-240_4926-236del	XP_011536384.1:n.4926-240_4926-236del
XM_017019090.1:c.4953-240_4953-236del	XP_016874579.1:n.4953-240_4953-236del
NM_015335.5:c.4956-240_4956-236del MANE Select	NP_056150.1:n.4956-240_4956-236del