Canonical Allele Identifier: CA2575306870

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116012931_116012932del , CM000674.2:g.116012931_116012932del	GRCh38
NC_000012.11:g.116450736_116450737del , CM000674.1:g.116450736_116450737del	GRCh37
NC_000012.10:g.114935119_114935120del	NCBI36
NG_023366.1:g.269259_269260del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.1176-27_1176-26del MANE Select	ENSP00000281928.3:n.1176-27_1176-26del
ENST00000548743.2:c.1146-27_1146-26del	ENSP00000448553.2:n.1146-27_1146-26del
ENST00000549786.2:c.604-27_604-26del
ENST00000647567.1:c.1086-30_1086-29del	ENSP00000497136.1:n.1086-30_1086-29del
ENST00000648737.1:n.940-27_940-26del
ENST00000650226.1:c.1176-27_1176-26del	ENSP00000496981.1:n.1176-27_1176-26del
ENST00000281928.7:c.1176-27_1176-26del	ENSP00000281928.3:n.1176-27_1176-26del
NM_015335.4:c.1176-27_1176-26del	NP_056150.1:n.1176-27_1176-26del
XM_011538080.1:c.1176-27_1176-26del	XP_011536382.1:n.1176-27_1176-26del
XM_011538081.1:c.1176-27_1176-26del	XP_011536383.1:n.1176-27_1176-26del
XM_011538082.1:c.1146-27_1146-26del	XP_011536384.1:n.1146-27_1146-26del
XM_011538080.2:c.1176-27_1176-26del	XP_011536382.1:n.1176-27_1176-26del
XM_011538081.2:c.1176-27_1176-26del	XP_011536383.1:n.1176-27_1176-26del
XM_011538082.2:c.1146-27_1146-26del	XP_011536384.1:n.1146-27_1146-26del
XM_017019090.1:c.1176-27_1176-26del	XP_016874579.1:n.1176-27_1176-26del
NM_015335.5:c.1176-27_1176-26del MANE Select	NP_056150.1:n.1176-27_1176-26del