Canonical Allele Identifier: CA2575306649

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115992029_115992030del , CM000674.2:g.115992029_115992030del	GRCh38
NC_000012.11:g.116429834_116429835del , CM000674.1:g.116429834_116429835del	GRCh37
NC_000012.10:g.114914217_114914218del	NCBI36
NG_023366.1:g.290159_290160del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2997-71_2997-70del MANE Select	ENSP00000281928.3:n.2997-71_2997-70del
ENST00000548743.2:c.2967-71_2967-70del	ENSP00000448553.2:n.2967-71_2967-70del
ENST00000549786.2:c.2425-71_2425-70del
ENST00000648173.1:n.1792-71_1792-70del
ENST00000648379.1:n.1365-71_1365-70del
ENST00000648737.1:n.2761-71_2761-70del
ENST00000648916.1:n.1008-71_1008-70del
ENST00000649607.1:c.1181-71_1181-70del
ENST00000650226.1:c.2997-71_2997-70del	ENSP00000496981.1:n.2997-71_2997-70del
ENST00000281928.7:c.2997-71_2997-70del	ENSP00000281928.3:n.2997-71_2997-70del
NM_015335.4:c.2997-71_2997-70del	NP_056150.1:n.2997-71_2997-70del
XM_011538080.1:c.2997-71_2997-70del	XP_011536382.1:n.2997-71_2997-70del
XM_011538081.1:c.2994-71_2994-70del	XP_011536383.1:n.2994-71_2994-70del
XM_011538082.1:c.2967-71_2967-70del	XP_011536384.1:n.2967-71_2967-70del
XM_011538080.2:c.2997-71_2997-70del	XP_011536382.1:n.2997-71_2997-70del
XM_011538081.2:c.2994-71_2994-70del	XP_011536383.1:n.2994-71_2994-70del
XM_011538082.2:c.2967-71_2967-70del	XP_011536384.1:n.2967-71_2967-70del
XM_017019090.1:c.2994-71_2994-70del	XP_016874579.1:n.2994-71_2994-70del
NM_015335.5:c.2997-71_2997-70del MANE Select	NP_056150.1:n.2997-71_2997-70del