Canonical Allele Identifier: CA2065365129

Gene: MED13L

Linked Data

• dbSNP Id: rs1878835706

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116002962_116002963insCT , CM000674.2:g.116002962_116002963insCT	GRCh38
NC_000012.11:g.116440767_116440768insCT , CM000674.1:g.116440767_116440768insCT	GRCh37
NC_000012.10:g.114925150_114925151insCT	NCBI36
NG_023366.1:g.279224_279225insAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.2569+40_2569+41insAG MANE Select	ENSP00000281928.3:n.2569+40_2569+41insAG
ENST00000548743.2:c.2539+40_2539+41insAG	ENSP00000448553.2:n.2539+40_2539+41insAG
ENST00000549786.2:c.1997+40_1997+41insAG
ENST00000648173.1:n.1364+40_1364+41insAG
ENST00000648379.1:n.937+40_937+41insAG
ENST00000648737.1:n.2333+40_2333+41insAG
ENST00000648916.1:n.580+40_580+41insAG
ENST00000649607.1:c.756+40_756+41insAG
ENST00000650226.1:c.2569+40_2569+41insAG	ENSP00000496981.1:n.2569+40_2569+41insAG
ENST00000281928.7:c.2569+40_2569+41insAG	ENSP00000281928.3:n.2569+40_2569+41insAG
NM_015335.4:c.2569+40_2569+41insAG	NP_056150.1:n.2569+40_2569+41insAG
XM_011538080.1:c.2569+40_2569+41insAG	XP_011536382.1:n.2569+40_2569+41insAG
XM_011538081.1:c.2569+40_2569+41insAG	XP_011536383.1:n.2569+40_2569+41insAG
XM_011538082.1:c.2539+40_2539+41insAG	XP_011536384.1:n.2539+40_2539+41insAG
XM_011538080.2:c.2569+40_2569+41insAG	XP_011536382.1:n.2569+40_2569+41insAG
XM_011538081.2:c.2569+40_2569+41insAG	XP_011536383.1:n.2569+40_2569+41insAG
XM_011538082.2:c.2539+40_2539+41insAG	XP_011536384.1:n.2539+40_2539+41insAG
XM_017019090.1:c.2569+40_2569+41insAG	XP_016874579.1:n.2569+40_2569+41insAG
NM_015335.5:c.2569+40_2569+41insAG MANE Select	NP_056150.1:n.2569+40_2569+41insAG