Canonical Allele Identifier: CA6811112

Gene: MED13L

Linked Data

• ClinVar Variation Id: 1181323
• ClinVar RCV Id: RCV001538676 ; RCV003497922
• dbSNP Id: rs556713164
• ExAC: 12:116434899 C / CATA
• gnomAD v2: 12-116434899-C-CATA
• gnomAD v3: 12-115997094-C-CATA
• gnomAD v4: 12-115997094-C-CATA
• MyVariant Identifiers: chr12:g.116434899_116434900insATA (hg19) ; chr12:g.115997094_115997095insATA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997095_115997097dup , CM000674.2:g.115997095_115997097dup	GRCh38
NC_000012.11:g.116434900_116434902dup , CM000674.1:g.116434900_116434902dup	GRCh37
NC_000012.10:g.114919283_114919285dup	NCBI36
NG_023366.1:g.285090_285092dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2703_2705dup MANE Select	ENSP00000281928.3:p.Pro901_Met902insIle
ENST00000548743.2:c.2673_2675dup	ENSP00000448553.2:p.Pro891_Met892insIle
ENST00000549786.2:c.2131_2133dup
ENST00000647927.1:n.3076_3078dup
ENST00000648173.1:n.1498_1500dup
ENST00000648379.1:n.1071_1073dup
ENST00000648737.1:n.2467_2469dup
ENST00000648916.1:n.714_716dup
ENST00000649607.1:c.887_889dup
ENST00000650226.1:c.2703_2705dup	ENSP00000496981.1:p.Pro901_Met902insIle
ENST00000281928.7:c.2703_2705dup	ENSP00000281928.3:p.Pro901_Met902insIle
NM_015335.4:c.2703_2705dup	NP_056150.1:p.Pro901_Met902insIle
XM_011538080.1:c.2703_2705dup	XP_011536382.1:p.Pro901_Met902insIle
XM_011538081.1:c.2700_2702dup	XP_011536383.1:p.Pro900_Met901insIle
XM_011538082.1:c.2673_2675dup	XP_011536384.1:p.Pro891_Met892insIle
XM_011538080.2:c.2703_2705dup	XP_011536382.1:p.Pro901_Met902insIle
XM_011538081.2:c.2700_2702dup	XP_011536383.1:p.Pro900_Met901insIle
XM_011538082.2:c.2673_2675dup	XP_011536384.1:p.Pro891_Met892insIle
XM_017019090.1:c.2700_2702dup	XP_016874579.1:p.Pro900_Met901insIle
NM_015335.5:c.2703_2705dup MANE Select	NP_056150.1:p.Pro901_Met902insIle