Canonical Allele Identifier: CA2065412882

Gene: MED13L

Linked Data

• dbSNP Id: rs1876850649
• gnomAD v4: 12-115975150-ACTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975155_115975157del , CM000674.2:g.115975155_115975157del	GRCh38
NC_000012.11:g.116412960_116412962del , CM000674.1:g.116412960_116412962del	GRCh37
NC_000012.10:g.114897343_114897345del	NCBI36
NG_023366.1:g.307034_307036del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5731+18_5731+20del MANE Select	ENSP00000281928.3:n.5731+18_5731+20del
ENST00000548694.2:n.721+18_721+20del
ENST00000648379.1:n.4099+18_4099+20del
ENST00000648737.1:n.5495+18_5495+20del
ENST00000648825.1:n.3916+18_3916+20del
ENST00000648916.1:n.3742+18_3742+20del
ENST00000649607.1:c.3915+18_3915+20del
ENST00000649775.1:c.2220+18_2220+20del
ENST00000650226.1:c.5767+18_5767+20del	ENSP00000496981.1:n.5767+18_5767+20del
ENST00000281928.7:c.5731+18_5731+20del	ENSP00000281928.3:n.5731+18_5731+20del
ENST00000548694.1:n.721+18_721+20del
ENST00000552447.1:c.344+18_344+20del
NM_015335.4:c.5731+18_5731+20del	NP_056150.1:n.5731+18_5731+20del
XM_011538080.1:c.5767+18_5767+20del	XP_011536382.1:n.5767+18_5767+20del
XM_011538081.1:c.5764+18_5764+20del	XP_011536383.1:n.5764+18_5764+20del
XM_011538082.1:c.5737+18_5737+20del	XP_011536384.1:n.5737+18_5737+20del
XM_011538080.2:c.5767+18_5767+20del	XP_011536382.1:n.5767+18_5767+20del
XM_011538081.2:c.5764+18_5764+20del	XP_011536383.1:n.5764+18_5764+20del
XM_011538082.2:c.5737+18_5737+20del	XP_011536384.1:n.5737+18_5737+20del
XM_017019090.1:c.5728+18_5728+20del	XP_016874579.1:n.5728+18_5728+20del
NM_015335.5:c.5731+18_5731+20del MANE Select	NP_056150.1:n.5731+18_5731+20del