Canonical Allele Identifier: CA2621144686

Gene: MED13L

Linked Data

• gnomAD v4: 12-116002878-CAGTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116002881_116002884del , CM000674.2:g.116002881_116002884del	GRCh38
NC_000012.11:g.116440686_116440689del , CM000674.1:g.116440686_116440689del	GRCh37
NC_000012.10:g.114925069_114925072del	NCBI36
NG_023366.1:g.279305_279308del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2569+121_2569+124del MANE Select	ENSP00000281928.3:n.2569+121_2569+124del
ENST00000548743.2:c.2539+121_2539+124del	ENSP00000448553.2:n.2539+121_2539+124del
ENST00000549786.2:c.1997+121_1997+124del
ENST00000648173.1:n.1364+121_1364+124del
ENST00000648379.1:n.937+121_937+124del
ENST00000648737.1:n.2333+121_2333+124del
ENST00000648916.1:n.580+121_580+124del
ENST00000649607.1:c.756+121_756+124del
ENST00000650226.1:c.2569+121_2569+124del	ENSP00000496981.1:n.2569+121_2569+124del
ENST00000281928.7:c.2569+121_2569+124del	ENSP00000281928.3:n.2569+121_2569+124del
NM_015335.4:c.2569+121_2569+124del	NP_056150.1:n.2569+121_2569+124del
XM_011538080.1:c.2569+121_2569+124del	XP_011536382.1:n.2569+121_2569+124del
XM_011538081.1:c.2569+121_2569+124del	XP_011536383.1:n.2569+121_2569+124del
XM_011538082.1:c.2539+121_2539+124del	XP_011536384.1:n.2539+121_2539+124del
XM_011538080.2:c.2569+121_2569+124del	XP_011536382.1:n.2569+121_2569+124del
XM_011538081.2:c.2569+121_2569+124del	XP_011536383.1:n.2569+121_2569+124del
XM_011538082.2:c.2539+121_2539+124del	XP_011536384.1:n.2539+121_2539+124del
XM_017019090.1:c.2569+121_2569+124del	XP_016874579.1:n.2569+121_2569+124del
NM_015335.5:c.2569+121_2569+124del MANE Select	NP_056150.1:n.2569+121_2569+124del