Canonical Allele Identifier: CA2573053602

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115968971dup , CM000674.2:g.115968971dup	GRCh38
NC_000012.11:g.116406776dup , CM000674.1:g.116406776dup	GRCh37
NC_000012.10:g.114891159dup	NCBI36
NG_023366.1:g.313217dup

Transcript Alleles

HGVS	Amino-acid Change
NM_015335.5:c.6195dup MANE Select	NP_056150.1:p.Gly2066TrpfsTer9
ENST00000281928.9:c.6195dup MANE Select	ENSP00000281928.3:p.Gly2066TrpfsTer9
NM_015335.4:c.6195dup	NP_056150.1:p.Gly2066TrpfsTer9
ENST00000281928.7:c.6195dup	ENSP00000281928.3:p.Gly2066TrpfsTer9
ENST00000548784.2:n.2409dup
ENST00000648379.1:n.4563dup
ENST00000648737.1:n.5959dup
ENST00000648825.1:n.4380dup
ENST00000648916.1:n.4206dup
ENST00000649607.1:c.4379dup
ENST00000649775.1:c.2556+1624dup
ENST00000650226.1:c.6231dup	ENSP00000496981.1:p.Gly2078TrpfsTer9
XM_011538080.1:c.6231dup	XP_011536382.1:p.Gly2078TrpfsTer9
XM_011538080.2:c.6231dup	XP_011536382.1:p.Gly2078TrpfsTer9
XM_011538081.1:c.6228dup	XP_011536383.1:p.Gly2077TrpfsTer9
XM_011538081.2:c.6228dup	XP_011536383.1:p.Gly2077TrpfsTer9
XM_011538082.1:c.6201dup	XP_011536384.1:p.Gly2068TrpfsTer9
XM_011538082.2:c.6201dup	XP_011536384.1:p.Gly2068TrpfsTer9
XM_017019090.1:c.6192dup	XP_016874579.1:p.Gly2065TrpfsTer9