Canonical Allele Identifier: CA2065397288

Gene: MED13L

Linked Data

• dbSNP Id: rs1878474146

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997420_115997424dup , CM000674.2:g.115997420_115997424dup	GRCh38
NC_000012.11:g.116435225_116435229dup , CM000674.1:g.116435225_116435229dup	GRCh37
NC_000012.10:g.114919608_114919612dup	NCBI36
NG_023366.1:g.284765_284769dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2570-192_2570-188dup MANE Select	ENSP00000281928.3:n.2570-192_2570-188dup
ENST00000548743.2:c.2540-192_2540-188dup	ENSP00000448553.2:n.2540-192_2540-188dup
ENST00000549786.2:c.1998-192_1998-188dup
ENST00000647927.1:n.2751_2755dup
ENST00000648173.1:n.1365-192_1365-188dup
ENST00000648379.1:n.938-192_938-188dup
ENST00000648737.1:n.2334-192_2334-188dup
ENST00000648916.1:n.581-192_581-188dup
ENST00000649607.1:c.757-195_757-191dup
ENST00000650226.1:c.2570-192_2570-188dup	ENSP00000496981.1:n.2570-192_2570-188dup
ENST00000281928.7:c.2570-192_2570-188dup	ENSP00000281928.3:n.2570-192_2570-188dup
NM_015335.4:c.2570-192_2570-188dup	NP_056150.1:n.2570-192_2570-188dup
XM_011538080.1:c.2570-192_2570-188dup	XP_011536382.1:n.2570-192_2570-188dup
XM_011538081.1:c.2570-195_2570-191dup	XP_011536383.1:n.2570-195_2570-191dup
XM_011538082.1:c.2540-192_2540-188dup	XP_011536384.1:n.2540-192_2540-188dup
XM_011538080.2:c.2570-192_2570-188dup	XP_011536382.1:n.2570-192_2570-188dup
XM_011538081.2:c.2570-195_2570-191dup	XP_011536383.1:n.2570-195_2570-191dup
XM_011538082.2:c.2540-192_2540-188dup	XP_011536384.1:n.2540-192_2540-188dup
XM_017019090.1:c.2570-195_2570-191dup	XP_016874579.1:n.2570-195_2570-191dup
NM_015335.5:c.2570-192_2570-188dup MANE Select	NP_056150.1:n.2570-192_2570-188dup