Canonical Allele Identifier: CA2621141638

Gene: MED13L

Linked Data

• gnomAD v4: 12-115982718-A-AGGCCGGGCGCGGTGGCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982718_115982719insGGCCGGGCGCGGTGGCTC , CM000674.2:g.115982718_115982719insGGCCGGGCGCGGTGGCTC	GRCh38
NC_000012.11:g.116420523_116420524insGGCCGGGCGCGGTGGCTC , CM000674.1:g.116420523_116420524insGGCCGGGCGCGGTGGCTC	GRCh37
NC_000012.10:g.114904906_114904907insGGCCGGGCGCGGTGGCTC	NCBI36
NG_023366.1:g.299468_299469insGAGCCACCGCGCCCGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4956-116_4956-115insGAGCCACCGCGCCCGGCC MANE Select	ENSP00000281928.3:n.4956-116_4956-115insGAGCCACCGCGCCCGGCC
ENST00000549786.2:c.4384-116_4384-115insGAGCCACCGCGCCCGGCC
ENST00000648379.1:n.3324-116_3324-115insGAGCCACCGCGCCCGGCC
ENST00000648737.1:n.4720-116_4720-115insGAGCCACCGCGCCCGGCC
ENST00000648825.1:n.1696-116_1696-115insGAGCCACCGCGCCCGGCC
ENST00000648916.1:n.2967-116_2967-115insGAGCCACCGCGCCCGGCC
ENST00000649146.1:n.2083_2084insGAGCCACCGCGCCCGGCC
ENST00000649607.1:c.3140-116_3140-115insGAGCCACCGCGCCCGGCC
ENST00000649775.1:c.1453-124_1453-123insGAGCCACCGCGCCCGGCC
ENST00000650226.1:c.4956-116_4956-115insGAGCCACCGCGCCCGGCC	ENSP00000496981.1:n.4956-116_4956-115insGAGCCACCGCGCCCGGCC
ENST00000281928.7:c.4956-116_4956-115insGAGCCACCGCGCCCGGCC	ENSP00000281928.3:n.4956-116_4956-115insGAGCCACCGCGCCCGGCC
ENST00000549786.1:c.320-116_320-115insGAGCCACCGCGCCCGGCC
NM_015335.4:c.4956-116_4956-115insGAGCCACCGCGCCCGGCC	NP_056150.1:n.4956-116_4956-115insGAGCCACCGCGCCCGGCC
XM_011538080.1:c.4956-116_4956-115insGAGCCACCGCGCCCGGCC	XP_011536382.1:n.4956-116_4956-115insGAGCCACCGCGCCCGGCC
XM_011538081.1:c.4953-116_4953-115insGAGCCACCGCGCCCGGCC	XP_011536383.1:n.4953-116_4953-115insGAGCCACCGCGCCCGGCC
XM_011538082.1:c.4926-116_4926-115insGAGCCACCGCGCCCGGCC	XP_011536384.1:n.4926-116_4926-115insGAGCCACCGCGCCCGGCC
XM_011538080.2:c.4956-116_4956-115insGAGCCACCGCGCCCGGCC	XP_011536382.1:n.4956-116_4956-115insGAGCCACCGCGCCCGGCC
XM_011538081.2:c.4953-116_4953-115insGAGCCACCGCGCCCGGCC	XP_011536383.1:n.4953-116_4953-115insGAGCCACCGCGCCCGGCC
XM_011538082.2:c.4926-116_4926-115insGAGCCACCGCGCCCGGCC	XP_011536384.1:n.4926-116_4926-115insGAGCCACCGCGCCCGGCC
XM_017019090.1:c.4953-116_4953-115insGAGCCACCGCGCCCGGCC	XP_016874579.1:n.4953-116_4953-115insGAGCCACCGCGCCCGGCC
NM_015335.5:c.4956-116_4956-115insGAGCCACCGCGCCCGGCC MANE Select	NP_056150.1:n.4956-116_4956-115insGAGCCACCGCGCCCGGCC