Canonical Allele Identifier: CA2065397552

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997579_115997585delinsGCCCAGC , CM000674.2:g.115997579_115997585delinsGCCCAGC	GRCh38
NC_000012.11:g.116435384_116435390delinsGCCCAGC , CM000674.1:g.116435384_116435390delinsGCCCAGC	GRCh37
NC_000012.10:g.114919767_114919773delinsGCCCAGC	NCBI36
NG_023366.1:g.284602_284608delinsGCTGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2570-355_2570-349delinsGCTGGGC MANE Select	ENSP00000281928.3:n.2570-355_2570-349delinsGCTGGGC
ENST00000548743.2:c.2540-355_2540-349delinsGCTGGGC	ENSP00000448553.2:n.2540-355_2540-349delinsGCTGGGC
ENST00000549786.2:c.1998-355_1998-349delinsGCTGGGC
ENST00000647927.1:n.2588_2594delinsGCTGGGC
ENST00000648173.1:n.1365-355_1365-349delinsGCTGGGC
ENST00000648379.1:n.938-355_938-349delinsGCTGGGC
ENST00000648737.1:n.2334-355_2334-349delinsGCTGGGC
ENST00000648916.1:n.581-355_581-349delinsGCTGGGC
ENST00000649607.1:c.757-358_757-352delinsGCTGGGC
ENST00000650226.1:c.2570-355_2570-349delinsGCTGGGC	ENSP00000496981.1:n.2570-355_2570-349delinsGCTGGGC
ENST00000281928.7:c.2570-355_2570-349delinsGCTGGGC	ENSP00000281928.3:n.2570-355_2570-349delinsGCTGGGC
NM_015335.4:c.2570-355_2570-349delinsGCTGGGC	NP_056150.1:n.2570-355_2570-349delinsGCTGGGC
XM_011538080.1:c.2570-355_2570-349delinsGCTGGGC	XP_011536382.1:n.2570-355_2570-349delinsGCTGGGC
XM_011538081.1:c.2570-358_2570-352delinsGCTGGGC	XP_011536383.1:n.2570-358_2570-352delinsGCTGGGC
XM_011538082.1:c.2540-355_2540-349delinsGCTGGGC	XP_011536384.1:n.2540-355_2540-349delinsGCTGGGC
XM_011538080.2:c.2570-355_2570-349delinsGCTGGGC	XP_011536382.1:n.2570-355_2570-349delinsGCTGGGC
XM_011538081.2:c.2570-358_2570-352delinsGCTGGGC	XP_011536383.1:n.2570-358_2570-352delinsGCTGGGC
XM_011538082.2:c.2540-355_2540-349delinsGCTGGGC	XP_011536384.1:n.2540-355_2540-349delinsGCTGGGC
XM_017019090.1:c.2570-358_2570-352delinsGCTGGGC	XP_016874579.1:n.2570-358_2570-352delinsGCTGGGC
NM_015335.5:c.2570-355_2570-349delinsGCTGGGC MANE Select	NP_056150.1:n.2570-355_2570-349delinsGCTGGGC