Canonical Allele Identifier: CA2739291741

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982596del , CM000674.2:g.115982596del	GRCh38
NC_000012.11:g.116420401del , CM000674.1:g.116420401del	GRCh37
NC_000012.10:g.114904784del	NCBI36
NG_023366.1:g.299591del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4963del MANE Select	ENSP00000281928.3:p.Glu1655LysfsTer5
ENST00000549786.2:c.4391del
ENST00000648379.1:n.3331del
ENST00000648737.1:n.4727del
ENST00000648825.1:n.1703del
ENST00000648916.1:n.2974del
ENST00000649146.1:n.2206del
ENST00000649607.1:c.3147del
ENST00000649775.1:c.1453-1del
ENST00000650226.1:c.4963del	ENSP00000496981.1:p.Glu1655LysfsTer5
ENST00000281928.7:c.4963del	ENSP00000281928.3:p.Glu1655LysfsTer5
ENST00000549786.1:c.327del
NM_015335.4:c.4963del	NP_056150.1:p.Glu1655LysfsTer5
XM_011538080.1:c.4963del	XP_011536382.1:p.Glu1655LysfsTer5
XM_011538081.1:c.4960del	XP_011536383.1:p.Glu1654LysfsTer5
XM_011538082.1:c.4933del	XP_011536384.1:p.Glu1645LysfsTer5
XM_011538080.2:c.4963del	XP_011536382.1:p.Glu1655LysfsTer5
XM_011538081.2:c.4960del	XP_011536383.1:p.Glu1654LysfsTer5
XM_011538082.2:c.4933del	XP_011536384.1:p.Glu1645LysfsTer5
XM_017019090.1:c.4960del	XP_016874579.1:p.Glu1654LysfsTer5
NM_015335.5:c.4963del MANE Select	NP_056150.1:p.Glu1655LysfsTer5