Canonical Allele Identifier: CA2797588549

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997302_115997303del , CM000674.2:g.115997302_115997303del	GRCh38
NC_000012.11:g.116435107_116435108del , CM000674.1:g.116435107_116435108del	GRCh37
NC_000012.10:g.114919490_114919491del	NCBI36
NG_023366.1:g.284886_284887del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2570-71_2570-70del MANE Select	ENSP00000281928.3:n.2570-71_2570-70del
ENST00000548743.2:c.2540-71_2540-70del	ENSP00000448553.2:n.2540-71_2540-70del
ENST00000549786.2:c.1998-71_1998-70del
ENST00000647927.1:n.2872_2873del
ENST00000648173.1:n.1365-71_1365-70del
ENST00000648379.1:n.938-71_938-70del
ENST00000648737.1:n.2334-71_2334-70del
ENST00000648916.1:n.581-71_581-70del
ENST00000649607.1:c.757-74_757-73del
ENST00000650226.1:c.2570-71_2570-70del	ENSP00000496981.1:n.2570-71_2570-70del
ENST00000281928.7:c.2570-71_2570-70del	ENSP00000281928.3:n.2570-71_2570-70del
NM_015335.4:c.2570-71_2570-70del	NP_056150.1:n.2570-71_2570-70del
XM_011538080.1:c.2570-71_2570-70del	XP_011536382.1:n.2570-71_2570-70del
XM_011538081.1:c.2570-74_2570-73del	XP_011536383.1:n.2570-74_2570-73del
XM_011538082.1:c.2540-71_2540-70del	XP_011536384.1:n.2540-71_2540-70del
XM_011538080.2:c.2570-71_2570-70del	XP_011536382.1:n.2570-71_2570-70del
XM_011538081.2:c.2570-74_2570-73del	XP_011536383.1:n.2570-74_2570-73del
XM_011538082.2:c.2540-71_2540-70del	XP_011536384.1:n.2540-71_2540-70del
XM_017019090.1:c.2570-74_2570-73del	XP_016874579.1:n.2570-74_2570-73del
NM_015335.5:c.2570-71_2570-70del MANE Select	NP_056150.1:n.2570-71_2570-70del