Canonical Allele Identifier: CA891843993

Gene: MED13L

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116006334_116006335del , CM000674.2:g.116006334_116006335del	GRCh38
NC_000012.11:g.116444139_116444140del , CM000674.1:g.116444139_116444140del	GRCh37
NC_000012.10:g.114928522_114928523del	NCBI36
NG_023366.1:g.275853_275854del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2316_2317del MANE Select	ENSP00000281928.3:p.Met772IlefsTer8
ENST00000548743.2:c.2286_2287del	ENSP00000448553.2:p.Met762IlefsTer8
ENST00000549786.2:c.1744_1745del
ENST00000648173.1:n.1111_1112del
ENST00000648737.1:n.2080_2081del
ENST00000648916.1:n.15_16del
ENST00000649607.1:c.503_504del
ENST00000649655.1:n.1918_1919del
ENST00000650226.1:c.2316_2317del	ENSP00000496981.1:p.Met772IlefsTer8
ENST00000650443.1:n.1332_1333del
ENST00000281928.7:c.2316_2317del	ENSP00000281928.3:p.Met772IlefsTer8
NM_015335.4:c.2316_2317del	NP_056150.1:p.Met772IlefsTer8
XM_011538080.1:c.2316_2317del	XP_011536382.1:p.Met772IlefsTer8
XM_011538081.1:c.2316_2317del	XP_011536383.1:p.Met772IlefsTer8
XM_011538082.1:c.2286_2287del	XP_011536384.1:p.Met762IlefsTer8
XM_011538080.2:c.2316_2317del	XP_011536382.1:p.Met772IlefsTer8
XM_011538081.2:c.2316_2317del	XP_011536383.1:p.Met772IlefsTer8
XM_011538082.2:c.2286_2287del	XP_011536384.1:p.Met762IlefsTer8
XM_017019090.1:c.2316_2317del	XP_016874579.1:p.Met772IlefsTer8
NM_015335.5:c.2316_2317del MANE Select	NP_056150.1:p.Met772IlefsTer8