Canonical Allele Identifier: CA2580085853

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115972202_115972205del , CM000674.2:g.115972202_115972205del	GRCh38
NC_000012.11:g.116410007_116410010del , CM000674.1:g.116410007_116410010del	GRCh37
NC_000012.10:g.114894390_114894393del	NCBI36
NG_023366.1:g.309985_309988del

Transcript Alleles

HGVS	Amino-acid Change
NM_015335.5:c.5766_5769del MANE Select	NP_056150.1:p.Thr1923SerfsTer?
ENST00000281928.9:c.5766_5769del MANE Select	ENSP00000281928.3:p.Thr1923SerfsTer?
NM_015335.4:c.5766_5769del	NP_056150.1:p.Thr1923SerfsTer?
ENST00000281928.7:c.5766_5769del	ENSP00000281928.3:p.Thr1923SerfsTer?
ENST00000548694.1:n.756_759del
ENST00000548694.2:n.756_759del
ENST00000548784.1:n.264_267del
ENST00000548784.2:n.1980_1983del
ENST00000552447.1:c.379_382del
ENST00000648379.1:n.4134_4137del
ENST00000648737.1:n.5530_5533del
ENST00000648825.1:n.3951_3954del
ENST00000648916.1:n.3777_3780del
ENST00000649607.1:c.3950_3953del
ENST00000649775.1:c.2255_2258del
ENST00000650226.1:c.5802_5805del	ENSP00000496981.1:p.Thr1935SerfsTer?
XM_011538080.1:c.5802_5805del	XP_011536382.1:p.Thr1935SerfsTer?
XM_011538080.2:c.5802_5805del	XP_011536382.1:p.Thr1935SerfsTer?
XM_011538081.1:c.5799_5802del	XP_011536383.1:p.Thr1934SerfsTer?
XM_011538081.2:c.5799_5802del	XP_011536383.1:p.Thr1934SerfsTer?
XM_011538082.1:c.5772_5775del	XP_011536384.1:p.Thr1925SerfsTer?
XM_011538082.2:c.5772_5775del	XP_011536384.1:p.Thr1925SerfsTer?
XM_017019090.1:c.5763_5766del	XP_016874579.1:p.Thr1922SerfsTer?