Canonical Allele Identifier: CA2065381660

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116012947_116012948delinsAC , CM000674.2:g.116012947_116012948delinsAC	GRCh38
NC_000012.11:g.116450752_116450753delinsAC , CM000674.1:g.116450752_116450753delinsAC	GRCh37
NC_000012.10:g.114935135_114935136delinsAC	NCBI36
NG_023366.1:g.269239_269240delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.1176-47_1176-46delinsGT MANE Select	ENSP00000281928.3:n.1176-47_1176-46delinsGT
ENST00000548743.2:c.1146-47_1146-46delinsGT	ENSP00000448553.2:n.1146-47_1146-46delinsGT
ENST00000549786.2:c.604-47_604-46delinsGT
ENST00000647567.1:c.1086-50_1086-49delinsGT	ENSP00000497136.1:n.1086-50_1086-49delinsGT
ENST00000648737.1:n.940-47_940-46delinsGT
ENST00000650226.1:c.1176-47_1176-46delinsGT	ENSP00000496981.1:n.1176-47_1176-46delinsGT
ENST00000281928.7:c.1176-47_1176-46delinsGT	ENSP00000281928.3:n.1176-47_1176-46delinsGT
NM_015335.4:c.1176-47_1176-46delinsGT	NP_056150.1:n.1176-47_1176-46delinsGT
XM_011538080.1:c.1176-47_1176-46delinsGT	XP_011536382.1:n.1176-47_1176-46delinsGT
XM_011538081.1:c.1176-47_1176-46delinsGT	XP_011536383.1:n.1176-47_1176-46delinsGT
XM_011538082.1:c.1146-47_1146-46delinsGT	XP_011536384.1:n.1146-47_1146-46delinsGT
XM_011538080.2:c.1176-47_1176-46delinsGT	XP_011536382.1:n.1176-47_1176-46delinsGT
XM_011538081.2:c.1176-47_1176-46delinsGT	XP_011536383.1:n.1176-47_1176-46delinsGT
XM_011538082.2:c.1146-47_1146-46delinsGT	XP_011536384.1:n.1146-47_1146-46delinsGT
XM_017019090.1:c.1176-47_1176-46delinsGT	XP_016874579.1:n.1176-47_1176-46delinsGT
NM_015335.5:c.1176-47_1176-46delinsGT MANE Select	NP_056150.1:n.1176-47_1176-46delinsGT