Canonical Allele Identifier: CA2065371535

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982483_115982486delinsGTCC , CM000674.2:g.115982483_115982486delinsGTCC	GRCh38
NC_000012.11:g.116420288_116420291delinsGTCC , CM000674.1:g.116420288_116420291delinsGTCC	GRCh37
NC_000012.10:g.114904671_114904674delinsGTCC	NCBI36
NG_023366.1:g.299701_299704delinsGGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5073_5076delinsGGAC MANE Select	ENSP00000281928.3:p.Glu1691=
ENST00000549786.2:c.4501_4504delinsGGAC
ENST00000648379.1:n.3441_3444delinsGGAC
ENST00000648737.1:n.4837_4840delinsGGAC
ENST00000648825.1:n.1813_1816delinsGGAC
ENST00000648916.1:n.3084_3087delinsGGAC
ENST00000649146.1:n.2316_2319delinsGGAC
ENST00000649607.1:c.3257_3260delinsGGAC
ENST00000649775.1:c.1562_1565delinsGGAC
ENST00000650226.1:c.5073_5076delinsGGAC	ENSP00000496981.1:p.Glu1691=
ENST00000281928.7:c.5073_5076delinsGGAC	ENSP00000281928.3:p.Glu1691=
ENST00000549786.1:c.437_440delinsGGAC
ENST00000552340.1:c.105_108delinsGGAC	ENSP00000449876.1:p.Glu35=
NM_015335.4:c.5073_5076delinsGGAC	NP_056150.1:p.Glu1691=
XM_011538080.1:c.5073_5076delinsGGAC	XP_011536382.1:p.Glu1691=
XM_011538081.1:c.5070_5073delinsGGAC	XP_011536383.1:p.Glu1690=
XM_011538082.1:c.5043_5046delinsGGAC	XP_011536384.1:p.Glu1681=
XM_011538080.2:c.5073_5076delinsGGAC	XP_011536382.1:p.Glu1691=
XM_011538081.2:c.5070_5073delinsGGAC	XP_011536383.1:p.Glu1690=
XM_011538082.2:c.5043_5046delinsGGAC	XP_011536384.1:p.Glu1681=
XM_017019090.1:c.5070_5073delinsGGAC	XP_016874579.1:p.Glu1690=
NM_015335.5:c.5073_5076delinsGGAC MANE Select	NP_056150.1:p.Glu1691=