Canonical Allele Identifier: CA2065397294

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997420_115997425delinsCTTGTT , CM000674.2:g.115997420_115997425delinsCTTGTT	GRCh38
NC_000012.11:g.116435225_116435230delinsCTTGTT , CM000674.1:g.116435225_116435230delinsCTTGTT	GRCh37
NC_000012.10:g.114919608_114919613delinsCTTGTT	NCBI36
NG_023366.1:g.284762_284767delinsAACAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2570-195_2570-190delinsAACAAG MANE Select	ENSP00000281928.3:n.2570-195_2570-190delinsAACAAG
ENST00000548743.2:c.2540-195_2540-190delinsAACAAG	ENSP00000448553.2:n.2540-195_2540-190delinsAACAAG
ENST00000549786.2:c.1998-195_1998-190delinsAACAAG
ENST00000647927.1:n.2748_2753delinsAACAAG
ENST00000648173.1:n.1365-195_1365-190delinsAACAAG
ENST00000648379.1:n.938-195_938-190delinsAACAAG
ENST00000648737.1:n.2334-195_2334-190delinsAACAAG
ENST00000648916.1:n.581-195_581-190delinsAACAAG
ENST00000649607.1:c.757-198_757-193delinsAACAAG
ENST00000650226.1:c.2570-195_2570-190delinsAACAAG	ENSP00000496981.1:n.2570-195_2570-190delinsAACAAG
ENST00000281928.7:c.2570-195_2570-190delinsAACAAG	ENSP00000281928.3:n.2570-195_2570-190delinsAACAAG
NM_015335.4:c.2570-195_2570-190delinsAACAAG	NP_056150.1:n.2570-195_2570-190delinsAACAAG
XM_011538080.1:c.2570-195_2570-190delinsAACAAG	XP_011536382.1:n.2570-195_2570-190delinsAACAAG
XM_011538081.1:c.2570-198_2570-193delinsAACAAG	XP_011536383.1:n.2570-198_2570-193delinsAACAAG
XM_011538082.1:c.2540-195_2540-190delinsAACAAG	XP_011536384.1:n.2540-195_2540-190delinsAACAAG
XM_011538080.2:c.2570-195_2570-190delinsAACAAG	XP_011536382.1:n.2570-195_2570-190delinsAACAAG
XM_011538081.2:c.2570-198_2570-193delinsAACAAG	XP_011536383.1:n.2570-198_2570-193delinsAACAAG
XM_011538082.2:c.2540-195_2540-190delinsAACAAG	XP_011536384.1:n.2540-195_2540-190delinsAACAAG
XM_017019090.1:c.2570-198_2570-193delinsAACAAG	XP_016874579.1:n.2570-198_2570-193delinsAACAAG
NM_015335.5:c.2570-195_2570-190delinsAACAAG MANE Select	NP_056150.1:n.2570-195_2570-190delinsAACAAG