Canonical Allele Identifier: CA2621141639

Gene: MED13L

Linked Data

• gnomAD v4: 12-115982718-AAAGGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982722_115982726del , CM000674.2:g.115982722_115982726del	GRCh38
NC_000012.11:g.116420527_116420531del , CM000674.1:g.116420527_116420531del	GRCh37
NC_000012.10:g.114904910_114904914del	NCBI36
NG_023366.1:g.299464_299468del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4956-120_4956-116del MANE Select	ENSP00000281928.3:n.4956-120_4956-116del
ENST00000549786.2:c.4384-120_4384-116del
ENST00000648379.1:n.3324-120_3324-116del
ENST00000648737.1:n.4720-120_4720-116del
ENST00000648825.1:n.1696-120_1696-116del
ENST00000648916.1:n.2967-120_2967-116del
ENST00000649146.1:n.2079_2083del
ENST00000649607.1:c.3140-120_3140-116del
ENST00000649775.1:c.1453-128_1453-124del
ENST00000650226.1:c.4956-120_4956-116del	ENSP00000496981.1:n.4956-120_4956-116del
ENST00000281928.7:c.4956-120_4956-116del	ENSP00000281928.3:n.4956-120_4956-116del
ENST00000549786.1:c.320-120_320-116del
NM_015335.4:c.4956-120_4956-116del	NP_056150.1:n.4956-120_4956-116del
XM_011538080.1:c.4956-120_4956-116del	XP_011536382.1:n.4956-120_4956-116del
XM_011538081.1:c.4953-120_4953-116del	XP_011536383.1:n.4953-120_4953-116del
XM_011538082.1:c.4926-120_4926-116del	XP_011536384.1:n.4926-120_4926-116del
XM_011538080.2:c.4956-120_4956-116del	XP_011536382.1:n.4956-120_4956-116del
XM_011538081.2:c.4953-120_4953-116del	XP_011536383.1:n.4953-120_4953-116del
XM_011538082.2:c.4926-120_4926-116del	XP_011536384.1:n.4926-120_4926-116del
XM_017019090.1:c.4953-120_4953-116del	XP_016874579.1:n.4953-120_4953-116del
NM_015335.5:c.4956-120_4956-116del MANE Select	NP_056150.1:n.4956-120_4956-116del