Canonical Allele Identifier: CA2739277326

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2833029
• ClinVar RCV Id: RCV003604494

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115966070_115966071insCAACCTTTAAG , CM000674.2:g.115966070_115966071insCAACCTTTAAG	GRCh38
NC_000012.11:g.116403875_116403876insCAACCTTTAAG , CM000674.1:g.116403875_116403876insCAACCTTTAAG	GRCh37
NC_000012.10:g.114888258_114888259insCAACCTTTAAG	NCBI36
NG_023366.1:g.316116_316117insCTTAAAGGTTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.6387+11_6387+12insCTTAAAGGTTG MANE Select	ENSP00000281928.3:n.6387+11_6387+12insCTT...
ENST00000548784.2:n.2601+11_2601+12insCTTAAAGGTTG
ENST00000648379.1:n.4755+11_4755+12insCTTAAAGGTTG
ENST00000648737.1:n.6151+11_6151+12insCTTAAAGGTTG
ENST00000648762.1:n.1077+11_1077+12insCTTAAAGGTTG
ENST00000648825.1:n.4572+11_4572+12insCTTAAAGGTTG
ENST00000648916.1:n.4398+11_4398+12insCTTAAAGGTTG
ENST00000649607.1:c.4571+11_4571+12insCTTAAAGGTTG
ENST00000649775.1:c.2718+11_2718+12insCTTAAAGGTTG
ENST00000650226.1:c.6423+11_6423+12insCTTAAAGGTTG	ENSP00000496981.1:n.6423+11_6423+12insCTT...
ENST00000281928.7:c.6387+11_6387+12insCTTAAAGGTTG	ENSP00000281928.3:n.6387+11_6387+12insCTT...
NM_015335.4:c.6387+11_6387+12insCTTAAAGGTTG	NP_056150.1:n.6387+11_6387+12insCTTAAAGGT...
XM_011538080.1:c.6423+11_6423+12insCTTAAAGGTTG	XP_011536382.1:n.6423+11_6423+12insCTTAAA...
XM_011538081.1:c.6420+11_6420+12insCTTAAAGGTTG	XP_011536383.1:n.6420+11_6420+12insCTTAAA...
XM_011538082.1:c.6393+11_6393+12insCTTAAAGGTTG	XP_011536384.1:n.6393+11_6393+12insCTTAAA...
XM_011538080.2:c.6423+11_6423+12insCTTAAAGGTTG	XP_011536382.1:n.6423+11_6423+12insCTTAAA...
XM_011538081.2:c.6420+11_6420+12insCTTAAAGGTTG	XP_011536383.1:n.6420+11_6420+12insCTTAAA...
XM_011538082.2:c.6393+11_6393+12insCTTAAAGGTTG	XP_011536384.1:n.6393+11_6393+12insCTTAAA...
XM_017019090.1:c.6384+11_6384+12insCTTAAAGGTTG	XP_016874579.1:n.6384+11_6384+12insCTTAAA...
NM_015335.5:c.6387+11_6387+12insCTTAAAGGTTG MANE Select	NP_056150.1:n.6387+11_6387+12insCTTAAAGGT...