Canonical Allele Identifier: CA2065371393

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982431_115982453delinsTTTCTGTGTAGCAGCGCATCAAG , CM000674.2:g.115982431_115982453delinsTTTCTGTGTAGCAGCGCATCAAG	GRCh38
NC_000012.11:g.116420236_116420258delinsTTTCTGTGTAGCAGCGCATCAAG , CM000674.1:g.116420236_116420258delinsTTTCTGTGTAGCAGCGCATCAAG	GRCh37
NC_000012.10:g.114904619_114904641delinsTTTCTGTGTAGCAGCGCATCAAG	NCBI36
NG_023366.1:g.299734_299756delinsCTTGATGCGCTGCTACACAGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5106_5128delinsCTTGATGCGCTGCTACACAGAAA MANE Select	ENSP00000281928.3:p.Ser1702=
ENST00000549786.2:c.4534_4556delinsCTTGATGCGCTGCTACACAGAAA
ENST00000648379.1:n.3474_3496delinsCTTGATGCGCTGCTACACAGAAA
ENST00000648737.1:n.4870_4892delinsCTTGATGCGCTGCTACACAGAAA
ENST00000648825.1:n.1846_1868delinsCTTGATGCGCTGCTACACAGAAA
ENST00000648916.1:n.3117_3139delinsCTTGATGCGCTGCTACACAGAAA
ENST00000649146.1:n.2349_2371delinsCTTGATGCGCTGCTACACAGAAA
ENST00000649607.1:c.3290_3312delinsCTTGATGCGCTGCTACACAGAAA
ENST00000649775.1:c.1595_1617delinsCTTGATGCGCTGCTACACAGAAA
ENST00000650226.1:c.5106_5128delinsCTTGATGCGCTGCTACACAGAAA	ENSP00000496981.1:p.Ser1702=
ENST00000281928.7:c.5106_5128delinsCTTGATGCGCTGCTACACAGAAA	ENSP00000281928.3:p.Ser1702=
ENST00000549786.1:c.470_492delinsCTTGATGCGCTGCTACACAGAAA
ENST00000552340.1:c.138_160delinsCTTGATGCGCTGCTACACAGAAA	ENSP00000449876.1:p.Ser46=
NM_015335.4:c.5106_5128delinsCTTGATGCGCTGCTACACAGAAA	NP_056150.1:p.Ser1702=
XM_011538080.1:c.5106_5128delinsCTTGATGCGCTGCTACACAGAAA	XP_011536382.1:p.Ser1702=
XM_011538081.1:c.5103_5125delinsCTTGATGCGCTGCTACACAGAAA	XP_011536383.1:p.Ser1701=
XM_011538082.1:c.5076_5098delinsCTTGATGCGCTGCTACACAGAAA	XP_011536384.1:p.Ser1692=
XM_011538080.2:c.5106_5128delinsCTTGATGCGCTGCTACACAGAAA	XP_011536382.1:p.Ser1702=
XM_011538081.2:c.5103_5125delinsCTTGATGCGCTGCTACACAGAAA	XP_011536383.1:p.Ser1701=
XM_011538082.2:c.5076_5098delinsCTTGATGCGCTGCTACACAGAAA	XP_011536384.1:p.Ser1692=
XM_017019090.1:c.5103_5125delinsCTTGATGCGCTGCTACACAGAAA	XP_016874579.1:p.Ser1701=
NM_015335.5:c.5106_5128delinsCTTGATGCGCTGCTACACAGAAA MANE Select	NP_056150.1:p.Ser1702=