Canonical Allele Identifier: CA684018415

Gene: MED13L

Linked Data

• dbSNP Id: rs1240387045
• MyVariant Identifiers: chr12:g.116420685_116420689del (hg19) ; chr12:g.115982880_115982884del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982882_115982886del , CM000674.2:g.115982882_115982886del	GRCh38
NC_000012.11:g.116420687_116420691del , CM000674.1:g.116420687_116420691del	GRCh37
NC_000012.10:g.114905070_114905074del	NCBI36
NG_023366.1:g.299303_299307del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4955+233_4955+237del MANE Select	ENSP00000281928.3:n.4955+233_4955+237del
ENST00000549786.2:c.4383+233_4383+237del
ENST00000648379.1:n.3323+233_3323+237del
ENST00000648737.1:n.4719+233_4719+237del
ENST00000648825.1:n.1695+233_1695+237del
ENST00000648916.1:n.2966+233_2966+237del
ENST00000649146.1:n.1918_1922del
ENST00000649607.1:c.3139+233_3139+237del
ENST00000649775.1:c.1452+233_1452+237del
ENST00000650226.1:c.4955+233_4955+237del	ENSP00000496981.1:n.4955+233_4955+237del
ENST00000281928.7:c.4955+233_4955+237del	ENSP00000281928.3:n.4955+233_4955+237del
ENST00000549786.1:c.319+233_319+237del
NM_015335.4:c.4955+233_4955+237del	NP_056150.1:n.4955+233_4955+237del
XM_011538080.1:c.4955+233_4955+237del	XP_011536382.1:n.4955+233_4955+237del
XM_011538081.1:c.4952+233_4952+237del	XP_011536383.1:n.4952+233_4952+237del
XM_011538082.1:c.4925+233_4925+237del	XP_011536384.1:n.4925+233_4925+237del
XM_011538080.2:c.4955+233_4955+237del	XP_011536382.1:n.4955+233_4955+237del
XM_011538081.2:c.4952+233_4952+237del	XP_011536383.1:n.4952+233_4952+237del
XM_011538082.2:c.4925+233_4925+237del	XP_011536384.1:n.4925+233_4925+237del
XM_017019090.1:c.4952+233_4952+237del	XP_016874579.1:n.4952+233_4952+237del
NM_015335.5:c.4955+233_4955+237del MANE Select	NP_056150.1:n.4955+233_4955+237del