Canonical Allele Identifier: CA2065365076

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116002875_116002877delinsTCA , CM000674.2:g.116002875_116002877delinsTCA	GRCh38
NC_000012.11:g.116440680_116440682delinsTCA , CM000674.1:g.116440680_116440682delinsTCA	GRCh37
NC_000012.10:g.114925063_114925065delinsTCA	NCBI36
NG_023366.1:g.279310_279312delinsTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2569+126_2569+128delinsTGA MANE Select	ENSP00000281928.3:n.2569+126_2569+128delinsTGA
ENST00000548743.2:c.2539+126_2539+128delinsTGA	ENSP00000448553.2:n.2539+126_2539+128delinsTGA
ENST00000549786.2:c.1997+126_1997+128delinsTGA
ENST00000648173.1:n.1364+126_1364+128delinsTGA
ENST00000648379.1:n.937+126_937+128delinsTGA
ENST00000648737.1:n.2333+126_2333+128delinsTGA
ENST00000648916.1:n.580+126_580+128delinsTGA
ENST00000649607.1:c.756+126_756+128delinsTGA
ENST00000650226.1:c.2569+126_2569+128delinsTGA	ENSP00000496981.1:n.2569+126_2569+128delinsTGA
ENST00000281928.7:c.2569+126_2569+128delinsTGA	ENSP00000281928.3:n.2569+126_2569+128delinsTGA
NM_015335.4:c.2569+126_2569+128delinsTGA	NP_056150.1:n.2569+126_2569+128delinsTGA
XM_011538080.1:c.2569+126_2569+128delinsTGA	XP_011536382.1:n.2569+126_2569+128delinsTGA
XM_011538081.1:c.2569+126_2569+128delinsTGA	XP_011536383.1:n.2569+126_2569+128delinsTGA
XM_011538082.1:c.2539+126_2539+128delinsTGA	XP_011536384.1:n.2539+126_2539+128delinsTGA
XM_011538080.2:c.2569+126_2569+128delinsTGA	XP_011536382.1:n.2569+126_2569+128delinsTGA
XM_011538081.2:c.2569+126_2569+128delinsTGA	XP_011536383.1:n.2569+126_2569+128delinsTGA
XM_011538082.2:c.2539+126_2539+128delinsTGA	XP_011536384.1:n.2539+126_2539+128delinsTGA
XM_017019090.1:c.2569+126_2569+128delinsTGA	XP_016874579.1:n.2569+126_2569+128delinsTGA
NM_015335.5:c.2569+126_2569+128delinsTGA MANE Select	NP_056150.1:n.2569+126_2569+128delinsTGA