Canonical Allele Identifier: CA2065397471

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997543_115997544delinsTC , CM000674.2:g.115997543_115997544delinsTC	GRCh38
NC_000012.11:g.116435348_116435349delinsTC , CM000674.1:g.116435348_116435349delinsTC	GRCh37
NC_000012.10:g.114919731_114919732delinsTC	NCBI36
NG_023366.1:g.284643_284644delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2570-314_2570-313delinsGA MANE Select	ENSP00000281928.3:n.2570-314_2570-313delinsGA
ENST00000548743.2:c.2540-314_2540-313delinsGA	ENSP00000448553.2:n.2540-314_2540-313delinsGA
ENST00000549786.2:c.1998-314_1998-313delinsGA
ENST00000647927.1:n.2629_2630delinsGA
ENST00000648173.1:n.1365-314_1365-313delinsGA
ENST00000648379.1:n.938-314_938-313delinsGA
ENST00000648737.1:n.2334-314_2334-313delinsGA
ENST00000648916.1:n.581-314_581-313delinsGA
ENST00000649607.1:c.757-317_757-316delinsGA
ENST00000650226.1:c.2570-314_2570-313delinsGA	ENSP00000496981.1:n.2570-314_2570-313delinsGA
ENST00000281928.7:c.2570-314_2570-313delinsGA	ENSP00000281928.3:n.2570-314_2570-313delinsGA
NM_015335.4:c.2570-314_2570-313delinsGA	NP_056150.1:n.2570-314_2570-313delinsGA
XM_011538080.1:c.2570-314_2570-313delinsGA	XP_011536382.1:n.2570-314_2570-313delinsGA
XM_011538081.1:c.2570-317_2570-316delinsGA	XP_011536383.1:n.2570-317_2570-316delinsGA
XM_011538082.1:c.2540-314_2540-313delinsGA	XP_011536384.1:n.2540-314_2540-313delinsGA
XM_011538080.2:c.2570-314_2570-313delinsGA	XP_011536382.1:n.2570-314_2570-313delinsGA
XM_011538081.2:c.2570-317_2570-316delinsGA	XP_011536383.1:n.2570-317_2570-316delinsGA
XM_011538082.2:c.2540-314_2540-313delinsGA	XP_011536384.1:n.2540-314_2540-313delinsGA
XM_017019090.1:c.2570-317_2570-316delinsGA	XP_016874579.1:n.2570-317_2570-316delinsGA
NM_015335.5:c.2570-314_2570-313delinsGA MANE Select	NP_056150.1:n.2570-314_2570-313delinsGA