Canonical Allele Identifier: CA2065397596

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997610_115997612delinsCAG , CM000674.2:g.115997610_115997612delinsCAG	GRCh38
NC_000012.11:g.116435415_116435417delinsCAG , CM000674.1:g.116435415_116435417delinsCAG	GRCh37
NC_000012.10:g.114919798_114919800delinsCAG	NCBI36
NG_023366.1:g.284575_284577delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2570-382_2570-380delinsCTG MANE Select	ENSP00000281928.3:n.2570-382_2570-380delinsCTG
ENST00000548743.2:c.2540-382_2540-380delinsCTG	ENSP00000448553.2:n.2540-382_2540-380delinsCTG
ENST00000549786.2:c.1998-382_1998-380delinsCTG
ENST00000647927.1:n.2561_2563delinsCTG
ENST00000648173.1:n.1365-382_1365-380delinsCTG
ENST00000648379.1:n.938-382_938-380delinsCTG
ENST00000648737.1:n.2334-382_2334-380delinsCTG
ENST00000648916.1:n.581-382_581-380delinsCTG
ENST00000649607.1:c.757-385_757-383delinsCTG
ENST00000650226.1:c.2570-382_2570-380delinsCTG	ENSP00000496981.1:n.2570-382_2570-380delinsCTG
ENST00000281928.7:c.2570-382_2570-380delinsCTG	ENSP00000281928.3:n.2570-382_2570-380delinsCTG
NM_015335.4:c.2570-382_2570-380delinsCTG	NP_056150.1:n.2570-382_2570-380delinsCTG
XM_011538080.1:c.2570-382_2570-380delinsCTG	XP_011536382.1:n.2570-382_2570-380delinsCTG
XM_011538081.1:c.2570-385_2570-383delinsCTG	XP_011536383.1:n.2570-385_2570-383delinsCTG
XM_011538082.1:c.2540-382_2540-380delinsCTG	XP_011536384.1:n.2540-382_2540-380delinsCTG
XM_011538080.2:c.2570-382_2570-380delinsCTG	XP_011536382.1:n.2570-382_2570-380delinsCTG
XM_011538081.2:c.2570-385_2570-383delinsCTG	XP_011536383.1:n.2570-385_2570-383delinsCTG
XM_011538082.2:c.2540-382_2540-380delinsCTG	XP_011536384.1:n.2540-382_2540-380delinsCTG
XM_017019090.1:c.2570-385_2570-383delinsCTG	XP_016874579.1:n.2570-385_2570-383delinsCTG
NM_015335.5:c.2570-382_2570-380delinsCTG MANE Select	NP_056150.1:n.2570-382_2570-380delinsCTG