Allele Registry

Canonical Allele Identifier: CA354072

Gene: MED13L HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr12:g.116237653_116237654insC

GRCh37 chr12:g.116675458_116675459insC

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000209902

ClinVar Variation:

224115

dbSNP:

869312875

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116237657dup , CM000674.2:g.116237657dup	GRCh38
NC_000012.11:g.116675462dup , CM000674.1:g.116675462dup	GRCh37
NC_000012.10:g.115159845dup	NCBI36
NG_023366.1:g.44533dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.124dup MANE Select	ENSP00000281928.3:p.Asp42GlyfsTer13
ENST00000548743.2:c.94dup	ENSP00000448553.2:p.Asp32GlyfsTer13
ENST00000551197.2:c.74dup
ENST00000647567.1:c.34dup	ENSP00000497136.1:p.Asp12GlyfsTer13
ENST00000650226.1:c.124dup	ENSP00000496981.1:p.Asp42GlyfsTer13
ENST00000650375.1:n.286dup
ENST00000281928.7:c.124dup	ENSP00000281928.3:p.Asp42GlyfsTer13
ENST00000548743.1:c.94dup	ENSP00000448553.1:p.Asp32GlyfsTer13
ENST00000551197.1:n.74dup
NM_015335.4:c.124dup	NP_056150.1:p.Asp42GlyfsTer13
XM_011538080.1:c.124dup	XP_011536382.1:p.Asp42GlyfsTer13
XM_011538081.1:c.124dup	XP_011536383.1:p.Asp42GlyfsTer13
XM_011538082.1:c.94dup	XP_011536384.1:p.Asp32GlyfsTer13
XM_011538080.2:c.124dup	XP_011536382.1:p.Asp42GlyfsTer13
XM_011538081.2:c.124dup	XP_011536383.1:p.Asp42GlyfsTer13
XM_011538082.2:c.94dup	XP_011536384.1:p.Asp32GlyfsTer13
XM_017019090.1:c.124dup	XP_016874579.1:p.Asp42GlyfsTer13
NM_015335.5:c.124dup MANE Select	NP_056150.1:p.Asp42GlyfsTer13

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