Canonical Allele Identifier: CA1139662897

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975270_115975277del , CM000674.2:g.115975270_115975277del	GRCh38
NC_000012.11:g.116413075_116413082del , CM000674.1:g.116413075_116413082del	GRCh37
NC_000012.10:g.114897458_114897465del	NCBI36
NG_023366.1:g.306911_306918del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5626_5633del MANE Select	ENSP00000281928.3:p.Leu1876ValfsTer?
ENST00000548694.2:n.616_623del
ENST00000648379.1:n.3994_4001del
ENST00000648737.1:n.5390_5397del
ENST00000648825.1:n.3811_3818del
ENST00000648916.1:n.3637_3644del
ENST00000649607.1:c.3810_3817del
ENST00000649775.1:c.2115_2122del
ENST00000650226.1:c.5662_5669del	ENSP00000496981.1:p.Leu1888ValfsTer?
ENST00000281928.7:c.5626_5633del	ENSP00000281928.3:p.Leu1876ValfsTer?
ENST00000548694.1:n.616_623del
ENST00000552447.1:c.239_246del
NM_015335.4:c.5626_5633del	NP_056150.1:p.Leu1876ValfsTer?
XM_011538080.1:c.5662_5669del	XP_011536382.1:p.Leu1888ValfsTer?
XM_011538081.1:c.5659_5666del	XP_011536383.1:p.Leu1887ValfsTer?
XM_011538082.1:c.5632_5639del	XP_011536384.1:p.Leu1878ValfsTer?
XM_011538080.2:c.5662_5669del	XP_011536382.1:p.Leu1888ValfsTer?
XM_011538081.2:c.5659_5666del	XP_011536383.1:p.Leu1887ValfsTer?
XM_011538082.2:c.5632_5639del	XP_011536384.1:p.Leu1878ValfsTer?
XM_017019090.1:c.5623_5630del	XP_016874579.1:p.Leu1875ValfsTer?
NM_015335.5:c.5626_5633del MANE Select	NP_056150.1:p.Leu1876ValfsTer?