Canonical Allele Identifier: CA2621141647

Gene: MED13L

Linked Data

• gnomAD v4: 12-115982728-G-GTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982729_115982730insGAT , CM000674.2:g.115982729_115982730insGAT	GRCh38
NC_000012.11:g.116420534_116420535insGAT , CM000674.1:g.116420534_116420535insGAT	GRCh37
NC_000012.10:g.114904917_114904918insGAT	NCBI36
NG_023366.1:g.299458_299459insTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4956-126_4956-125insTCA MANE Select	ENSP00000281928.3:n.4956-126_4956-125insTCA
ENST00000549786.2:c.4384-126_4384-125insTCA
ENST00000648379.1:n.3324-126_3324-125insTCA
ENST00000648737.1:n.4720-126_4720-125insTCA
ENST00000648825.1:n.1696-126_1696-125insTCA
ENST00000648916.1:n.2967-126_2967-125insTCA
ENST00000649146.1:n.2073_2074insTCA
ENST00000649607.1:c.3140-126_3140-125insTCA
ENST00000649775.1:c.1453-134_1453-133insTCA
ENST00000650226.1:c.4956-126_4956-125insTCA	ENSP00000496981.1:n.4956-126_4956-125insTCA
ENST00000281928.7:c.4956-126_4956-125insTCA	ENSP00000281928.3:n.4956-126_4956-125insTCA
ENST00000549786.1:c.320-126_320-125insTCA
NM_015335.4:c.4956-126_4956-125insTCA	NP_056150.1:n.4956-126_4956-125insTCA
XM_011538080.1:c.4956-126_4956-125insTCA	XP_011536382.1:n.4956-126_4956-125insTCA
XM_011538081.1:c.4953-126_4953-125insTCA	XP_011536383.1:n.4953-126_4953-125insTCA
XM_011538082.1:c.4926-126_4926-125insTCA	XP_011536384.1:n.4926-126_4926-125insTCA
XM_011538080.2:c.4956-126_4956-125insTCA	XP_011536382.1:n.4956-126_4956-125insTCA
XM_011538081.2:c.4953-126_4953-125insTCA	XP_011536383.1:n.4953-126_4953-125insTCA
XM_011538082.2:c.4926-126_4926-125insTCA	XP_011536384.1:n.4926-126_4926-125insTCA
XM_017019090.1:c.4953-126_4953-125insTCA	XP_016874579.1:n.4953-126_4953-125insTCA
NM_015335.5:c.4956-126_4956-125insTCA MANE Select	NP_056150.1:n.4956-126_4956-125insTCA