Canonical Allele Identifier: CA2621141640

Gene: MED13L

Linked Data

• gnomAD v4: 12-115982719-A-ACGCCTGTAATCCCAGCACTTTGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982719_115982720insCGCCTGTAATCCCAGCACTTTGGG , CM000674.2:g.115982719_115982720insCGCCTGTAATCCCAGCACTTTGGG	GRCh38
NC_000012.11:g.116420524_116420525insCGCCTGTAATCCCAGCACTTTGGG , CM000674.1:g.116420524_116420525insCGCCTGTAATCCCAGCACTTTGGG	GRCh37
NC_000012.10:g.114904907_114904908insCGCCTGTAATCCCAGCACTTTGGG	NCBI36
NG_023366.1:g.299467_299468insCCCAAAGTGCTGGGATTACAGGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4956-117_4956-116insCCCAAAGTGCTGGGATTACAGGCG MANE Select	ENSP00000281928.3:n.4956-117_4956-116insCCCAAAGTGCTGGGATTACAG...
ENST00000549786.2:c.4384-117_4384-116insCCCAAAGTGCTGGGATTACAGGCG
ENST00000648379.1:n.3324-117_3324-116insCCCAAAGTGCTGGGATTACAGGCG
ENST00000648737.1:n.4720-117_4720-116insCCCAAAGTGCTGGGATTACAGGCG
ENST00000648825.1:n.1696-117_1696-116insCCCAAAGTGCTGGGATTACAGGCG
ENST00000648916.1:n.2967-117_2967-116insCCCAAAGTGCTGGGATTACAGGCG
ENST00000649146.1:n.2082_2083insCCCAAAGTGCTGGGATTACAGGCG
ENST00000649607.1:c.3140-117_3140-116insCCCAAAGTGCTGGGATTACAGGCG
ENST00000649775.1:c.1453-125_1453-124insCCCAAAGTGCTGGGATTACAGGCG
ENST00000650226.1:c.4956-117_4956-116insCCCAAAGTGCTGGGATTACAGGCG	ENSP00000496981.1:n.4956-117_4956-116insCCCAAAGTGCTGGGATTACAG...
ENST00000281928.7:c.4956-117_4956-116insCCCAAAGTGCTGGGATTACAGGCG	ENSP00000281928.3:n.4956-117_4956-116insCCCAAAGTGCTGGGATTACAG...
ENST00000549786.1:c.320-117_320-116insCCCAAAGTGCTGGGATTACAGGCG
NM_015335.4:c.4956-117_4956-116insCCCAAAGTGCTGGGATTACAGGCG	NP_056150.1:n.4956-117_4956-116insCCCAAAGTGCTGGGATTACAGGCG
XM_011538080.1:c.4956-117_4956-116insCCCAAAGTGCTGGGATTACAGGCG	XP_011536382.1:n.4956-117_4956-116insCCCAAAGTGCTGGGATTACAGGCG...
XM_011538081.1:c.4953-117_4953-116insCCCAAAGTGCTGGGATTACAGGCG	XP_011536383.1:n.4953-117_4953-116insCCCAAAGTGCTGGGATTACAGGCG...
XM_011538082.1:c.4926-117_4926-116insCCCAAAGTGCTGGGATTACAGGCG	XP_011536384.1:n.4926-117_4926-116insCCCAAAGTGCTGGGATTACAGGCG...
XM_011538080.2:c.4956-117_4956-116insCCCAAAGTGCTGGGATTACAGGCG	XP_011536382.1:n.4956-117_4956-116insCCCAAAGTGCTGGGATTACAGGCG...
XM_011538081.2:c.4953-117_4953-116insCCCAAAGTGCTGGGATTACAGGCG	XP_011536383.1:n.4953-117_4953-116insCCCAAAGTGCTGGGATTACAGGCG...
XM_011538082.2:c.4926-117_4926-116insCCCAAAGTGCTGGGATTACAGGCG	XP_011536384.1:n.4926-117_4926-116insCCCAAAGTGCTGGGATTACAGGCG...
XM_017019090.1:c.4953-117_4953-116insCCCAAAGTGCTGGGATTACAGGCG	XP_016874579.1:n.4953-117_4953-116insCCCAAAGTGCTGGGATTACAGGCG...
NM_015335.5:c.4956-117_4956-116insCCCAAAGTGCTGGGATTACAGGCG MANE Select	NP_056150.1:n.4956-117_4956-116insCCCAAAGTGCTGGGATTACAGGCG