Canonical Allele Identifier: CA952185234

Gene: MED13L

Linked Data

• dbSNP Id: rs1876857250
• gnomAD v3: 12-115975281-A-ATTTTAC
• gnomAD v4: 12-115975281-A-ATTTTAC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975282_115975287dup , CM000674.2:g.115975282_115975287dup	GRCh38
NC_000012.11:g.116413087_116413092dup , CM000674.1:g.116413087_116413092dup	GRCh37
NC_000012.10:g.114897470_114897475dup	NCBI36
NG_023366.1:g.306900_306905dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5615_5620dup MANE Select	ENSP00000281928.3:p.Lys1873_Ile1874insSerLys
ENST00000548694.2:n.605_610dup
ENST00000648379.1:n.3983_3988dup
ENST00000648737.1:n.5379_5384dup
ENST00000648825.1:n.3800_3805dup
ENST00000648916.1:n.3626_3631dup
ENST00000649607.1:c.3799_3804dup
ENST00000649775.1:c.2104_2109dup
ENST00000650226.1:c.5651_5656dup	ENSP00000496981.1:p.Lys1885_Ile1886insSerLys
ENST00000281928.7:c.5615_5620dup	ENSP00000281928.3:p.Lys1873_Ile1874insSerLys
ENST00000548694.1:n.605_610dup
ENST00000552447.1:c.228_233dup
NM_015335.4:c.5615_5620dup	NP_056150.1:p.Lys1873_Ile1874insSerLys
XM_011538080.1:c.5651_5656dup	XP_011536382.1:p.Lys1885_Ile1886insSerLys
XM_011538081.1:c.5648_5653dup	XP_011536383.1:p.Lys1884_Ile1885insSerLys
XM_011538082.1:c.5621_5626dup	XP_011536384.1:p.Lys1875_Ile1876insSerLys
XM_011538080.2:c.5651_5656dup	XP_011536382.1:p.Lys1885_Ile1886insSerLys
XM_011538081.2:c.5648_5653dup	XP_011536383.1:p.Lys1884_Ile1885insSerLys
XM_011538082.2:c.5621_5626dup	XP_011536384.1:p.Lys1875_Ile1876insSerLys
XM_017019090.1:c.5612_5617dup	XP_016874579.1:p.Lys1872_Ile1873insSerLys
NM_015335.5:c.5615_5620dup MANE Select	NP_056150.1:p.Lys1873_Ile1874insSerLys