Canonical Allele Identifier: CA2065372378

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982868_115982871delinsAGTT , CM000674.2:g.115982868_115982871delinsAGTT	GRCh38
NC_000012.11:g.116420673_116420676delinsAGTT , CM000674.1:g.116420673_116420676delinsAGTT	GRCh37
NC_000012.10:g.114905056_114905059delinsAGTT	NCBI36
NG_023366.1:g.299316_299319delinsAACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4955+246_4955+249delinsAACT MANE Select	ENSP00000281928.3:n.4955+246_4955+249delinsAACT
ENST00000549786.2:c.4383+246_4383+249delinsAACT
ENST00000648379.1:n.3323+246_3323+249delinsAACT
ENST00000648737.1:n.4719+246_4719+249delinsAACT
ENST00000648825.1:n.1695+246_1695+249delinsAACT
ENST00000648916.1:n.2966+246_2966+249delinsAACT
ENST00000649146.1:n.1931_1934delinsAACT
ENST00000649607.1:c.3139+246_3139+249delinsAACT
ENST00000649775.1:c.1452+246_1452+249delinsAACT
ENST00000650226.1:c.4955+246_4955+249delinsAACT	ENSP00000496981.1:n.4955+246_4955+249delinsAACT
ENST00000281928.7:c.4955+246_4955+249delinsAACT	ENSP00000281928.3:n.4955+246_4955+249delinsAACT
ENST00000549786.1:c.319+246_319+249delinsAACT
NM_015335.4:c.4955+246_4955+249delinsAACT	NP_056150.1:n.4955+246_4955+249delinsAACT
XM_011538080.1:c.4955+246_4955+249delinsAACT	XP_011536382.1:n.4955+246_4955+249delinsAACT
XM_011538081.1:c.4952+246_4952+249delinsAACT	XP_011536383.1:n.4952+246_4952+249delinsAACT
XM_011538082.1:c.4925+246_4925+249delinsAACT	XP_011536384.1:n.4925+246_4925+249delinsAACT
XM_011538080.2:c.4955+246_4955+249delinsAACT	XP_011536382.1:n.4955+246_4955+249delinsAACT
XM_011538081.2:c.4952+246_4952+249delinsAACT	XP_011536383.1:n.4952+246_4952+249delinsAACT
XM_011538082.2:c.4925+246_4925+249delinsAACT	XP_011536384.1:n.4925+246_4925+249delinsAACT
XM_017019090.1:c.4952+246_4952+249delinsAACT	XP_016874579.1:n.4952+246_4952+249delinsAACT
NM_015335.5:c.4955+246_4955+249delinsAACT MANE Select	NP_056150.1:n.4955+246_4955+249delinsAACT