Canonical Allele Identifier: CA6811828

Gene: MED13L

Linked Data

• ClinVar Variation Id: 1165216
• ClinVar RCV Id: RCV001512115 ; RCV001569913 ; RCV003966071
• dbSNP Id: rs765651929
• ExAC: 12:116675518 A / AAG
• gnomAD v2: 12-116675518-A-AAG
• gnomAD v3: 12-116237713-A-AAG
• gnomAD v4: 12-116237713-A-AAG
• MyVariant Identifiers: chr12:g.116675518_116675519insAG (hg19) ; chr12:g.116237713_116237714insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116237715_116237716dup , CM000674.2:g.116237715_116237716dup	GRCh38
NC_000012.11:g.116675520_116675521dup , CM000674.1:g.116675520_116675521dup	GRCh37
NC_000012.10:g.115159903_115159904dup	NCBI36
NG_023366.1:g.44472_44473dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.73-10_73-9dup MANE Select	ENSP00000281928.3:n.73-10_73-9dup
ENST00000548743.2:c.43-10_43-9dup	ENSP00000448553.2:n.43-10_43-9dup
ENST00000551197.2:c.23-10_23-9dup
ENST00000650226.1:c.73-10_73-9dup	ENSP00000496981.1:n.73-10_73-9dup
ENST00000650375.1:n.235-10_235-9dup
ENST00000281928.7:c.73-10_73-9dup	ENSP00000281928.3:n.73-10_73-9dup
ENST00000548743.1:c.43-10_43-9dup	ENSP00000448553.1:n.43-10_43-9dup
ENST00000551197.1:n.23-10_23-9dup
NM_015335.4:c.73-10_73-9dup	NP_056150.1:n.73-10_73-9dup
XM_011538080.1:c.73-10_73-9dup	XP_011536382.1:n.73-10_73-9dup
XM_011538081.1:c.73-10_73-9dup	XP_011536383.1:n.73-10_73-9dup
XM_011538082.1:c.43-10_43-9dup	XP_011536384.1:n.43-10_43-9dup
XM_011538080.2:c.73-10_73-9dup	XP_011536382.1:n.73-10_73-9dup
XM_011538081.2:c.73-10_73-9dup	XP_011536383.1:n.73-10_73-9dup
XM_011538082.2:c.43-10_43-9dup	XP_011536384.1:n.43-10_43-9dup
XM_017019090.1:c.73-10_73-9dup	XP_016874579.1:n.73-10_73-9dup
NM_015335.5:c.73-10_73-9dup MANE Select	NP_056150.1:n.73-10_73-9dup