Canonical Allele Identifier: CA2065372382

Gene: MED13L

Linked Data

• dbSNP Id: rs1877425237

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982872_115982874del , CM000674.2:g.115982872_115982874del	GRCh38
NC_000012.11:g.116420677_116420679del , CM000674.1:g.116420677_116420679del	GRCh37
NC_000012.10:g.114905060_114905062del	NCBI36
NG_023366.1:g.299316_299318del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4955+246_4955+248del MANE Select	ENSP00000281928.3:n.4955+246_4955+248del
ENST00000549786.2:c.4383+246_4383+248del
ENST00000648379.1:n.3323+246_3323+248del
ENST00000648737.1:n.4719+246_4719+248del
ENST00000648825.1:n.1695+246_1695+248del
ENST00000648916.1:n.2966+246_2966+248del
ENST00000649146.1:n.1931_1933del
ENST00000649607.1:c.3139+246_3139+248del
ENST00000649775.1:c.1452+246_1452+248del
ENST00000650226.1:c.4955+246_4955+248del	ENSP00000496981.1:n.4955+246_4955+248del
ENST00000281928.7:c.4955+246_4955+248del	ENSP00000281928.3:n.4955+246_4955+248del
ENST00000549786.1:c.319+246_319+248del
NM_015335.4:c.4955+246_4955+248del	NP_056150.1:n.4955+246_4955+248del
XM_011538080.1:c.4955+246_4955+248del	XP_011536382.1:n.4955+246_4955+248del
XM_011538081.1:c.4952+246_4952+248del	XP_011536383.1:n.4952+246_4952+248del
XM_011538082.1:c.4925+246_4925+248del	XP_011536384.1:n.4925+246_4925+248del
XM_011538080.2:c.4955+246_4955+248del	XP_011536382.1:n.4955+246_4955+248del
XM_011538081.2:c.4952+246_4952+248del	XP_011536383.1:n.4952+246_4952+248del
XM_011538082.2:c.4925+246_4925+248del	XP_011536384.1:n.4925+246_4925+248del
XM_017019090.1:c.4952+246_4952+248del	XP_016874579.1:n.4952+246_4952+248del
NM_015335.5:c.4955+246_4955+248del MANE Select	NP_056150.1:n.4955+246_4955+248del