Canonical Allele Identifier: CA684017883

Gene: MED13L

Linked Data

• dbSNP Id: rs1162454757
• MyVariant Identifiers: chr12:g.116420163_116420166del (hg19) ; chr12:g.115982358_115982361del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982361_115982364del , CM000674.2:g.115982361_115982364del	GRCh38
NC_000012.11:g.116420166_116420169del , CM000674.1:g.116420166_116420169del	GRCh37
NC_000012.10:g.114904549_114904552del	NCBI36
NG_023366.1:g.299826_299829del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5175+23_5175+26del MANE Select	ENSP00000281928.3:n.5175+23_5175+26del
ENST00000549786.2:c.4626_4629del
ENST00000648379.1:n.3543+23_3543+26del
ENST00000648737.1:n.4939+23_4939+26del
ENST00000648825.1:n.1938_1941del
ENST00000648916.1:n.3186+23_3186+26del
ENST00000649146.1:n.2441_2444del
ENST00000649607.1:c.3359+23_3359+26del
ENST00000649775.1:c.1664+23_1664+26del
ENST00000650226.1:c.5175+23_5175+26del	ENSP00000496981.1:n.5175+23_5175+26del
ENST00000281928.7:c.5175+23_5175+26del	ENSP00000281928.3:n.5175+23_5175+26del
ENST00000549786.1:c.562_565del
ENST00000552340.1:c.207+23_207+26del	ENSP00000449876.1:n.207+23_207+26del
NM_015335.4:c.5175+23_5175+26del	NP_056150.1:n.5175+23_5175+26del
XM_011538080.1:c.5175+23_5175+26del	XP_011536382.1:n.5175+23_5175+26del
XM_011538081.1:c.5172+23_5172+26del	XP_011536383.1:n.5172+23_5172+26del
XM_011538082.1:c.5145+23_5145+26del	XP_011536384.1:n.5145+23_5145+26del
XM_011538080.2:c.5175+23_5175+26del	XP_011536382.1:n.5175+23_5175+26del
XM_011538081.2:c.5172+23_5172+26del	XP_011536383.1:n.5172+23_5172+26del
XM_011538082.2:c.5145+23_5145+26del	XP_011536384.1:n.5145+23_5145+26del
XM_017019090.1:c.5172+23_5172+26del	XP_016874579.1:n.5172+23_5172+26del
NM_015335.5:c.5175+23_5175+26del MANE Select	NP_056150.1:n.5175+23_5175+26del