Canonical Allele Identifier: CA607650531

Gene: MED13L

Linked Data

• dbSNP Id: rs1298583336
• gnomAD v2: 12-116413165-CAG-C
• gnomAD v3: 12-115975360-CAG-C
• gnomAD v4: 12-115975360-CAG-C
• MyVariant Identifiers: chr12:g.116413166_116413167del (hg19) ; chr12:g.115975361_115975362del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975363_115975364del , CM000674.2:g.115975363_115975364del	GRCh38
NC_000012.11:g.116413168_116413169del , CM000674.1:g.116413168_116413169del	GRCh37
NC_000012.10:g.114897551_114897552del	NCBI36
NG_023366.1:g.306825_306826del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5589-49_5589-48del MANE Select	ENSP00000281928.3:n.5589-49_5589-48del
ENST00000548694.2:n.530_531del
ENST00000648379.1:n.3957-49_3957-48del
ENST00000648737.1:n.5353-49_5353-48del
ENST00000648825.1:n.3774-49_3774-48del
ENST00000648916.1:n.3600-49_3600-48del
ENST00000649607.1:c.3773-49_3773-48del
ENST00000649775.1:c.2078-49_2078-48del
ENST00000650226.1:c.5589-13_5589-12del	ENSP00000496981.1:n.5589-13_5589-12del
ENST00000281928.7:c.5589-49_5589-48del	ENSP00000281928.3:n.5589-49_5589-48del
ENST00000548694.1:n.530_531del
ENST00000552447.1:c.166-13_166-12del
NM_015335.4:c.5589-49_5589-48del	NP_056150.1:n.5589-49_5589-48del
XM_011538080.1:c.5589-13_5589-12del	XP_011536382.1:n.5589-13_5589-12del
XM_011538081.1:c.5586-13_5586-12del	XP_011536383.1:n.5586-13_5586-12del
XM_011538082.1:c.5559-13_5559-12del	XP_011536384.1:n.5559-13_5559-12del
XM_011538080.2:c.5589-13_5589-12del	XP_011536382.1:n.5589-13_5589-12del
XM_011538081.2:c.5586-13_5586-12del	XP_011536383.1:n.5586-13_5586-12del
XM_011538082.2:c.5559-13_5559-12del	XP_011536384.1:n.5559-13_5559-12del
XM_017019090.1:c.5586-49_5586-48del	XP_016874579.1:n.5586-49_5586-48del
NM_015335.5:c.5589-49_5589-48del MANE Select	NP_056150.1:n.5589-49_5589-48del