Canonical Allele Identifier: CA684018380

Gene: MED13L

Linked Data

• dbSNP Id: rs1334923944
• gnomAD v3: 12-115982747-C-CA
• gnomAD v4: 12-115982747-C-CA
• MyVariant Identifiers: chr12:g.116420552_116420553insA (hg19) ; chr12:g.115982747_115982748insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982751dup , CM000674.2:g.115982751dup	GRCh38
NC_000012.11:g.116420556dup , CM000674.1:g.116420556dup	GRCh37
NC_000012.10:g.114904939dup	NCBI36
NG_023366.1:g.299439dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4956-145dup MANE Select	ENSP00000281928.3:n.4956-145dup
ENST00000549786.2:c.4384-145dup
ENST00000648379.1:n.3324-145dup
ENST00000648737.1:n.4720-145dup
ENST00000648825.1:n.1696-145dup
ENST00000648916.1:n.2967-145dup
ENST00000649146.1:n.2054dup
ENST00000649607.1:c.3140-145dup
ENST00000649775.1:c.1453-153dup
ENST00000650226.1:c.4956-145dup	ENSP00000496981.1:n.4956-145dup
ENST00000281928.7:c.4956-145dup	ENSP00000281928.3:n.4956-145dup
ENST00000549786.1:c.320-145dup
NM_015335.4:c.4956-145dup	NP_056150.1:n.4956-145dup
XM_011538080.1:c.4956-145dup	XP_011536382.1:n.4956-145dup
XM_011538081.1:c.4953-145dup	XP_011536383.1:n.4953-145dup
XM_011538082.1:c.4926-145dup	XP_011536384.1:n.4926-145dup
XM_011538080.2:c.4956-145dup	XP_011536382.1:n.4956-145dup
XM_011538081.2:c.4953-145dup	XP_011536383.1:n.4953-145dup
XM_011538082.2:c.4926-145dup	XP_011536384.1:n.4926-145dup
XM_017019090.1:c.4953-145dup	XP_016874579.1:n.4953-145dup
NM_015335.5:c.4956-145dup MANE Select	NP_056150.1:n.4956-145dup