Canonical Allele Identifier: CA2065412979

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975397_115975410delinsTTCCAAAGAACCTA , CM000674.2:g.115975397_115975410delinsTTCCAAAGAACCTA	GRCh38
NC_000012.11:g.116413202_116413215delinsTTCCAAAGAACCTA , CM000674.1:g.116413202_116413215delinsTTCCAAAGAACCTA	GRCh37
NC_000012.10:g.114897585_114897598delinsTTCCAAAGAACCTA	NCBI36
NG_023366.1:g.306777_306790delinsTAGGTTCTTTGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5589-97_5589-84delinsTAGGTTCTTTGGAA MANE Select	ENSP00000281928.3:n.5589-97_5589-84delinsTAGGTTCTTTGGAA
ENST00000548694.2:n.482_495delinsTAGGTTCTTTGGAA
ENST00000648379.1:n.3957-97_3957-84delinsTAGGTTCTTTGGAA
ENST00000648737.1:n.5353-97_5353-84delinsTAGGTTCTTTGGAA
ENST00000648825.1:n.3774-97_3774-84delinsTAGGTTCTTTGGAA
ENST00000648916.1:n.3600-97_3600-84delinsTAGGTTCTTTGGAA
ENST00000649607.1:c.3773-97_3773-84delinsTAGGTTCTTTGGAA
ENST00000649775.1:c.2078-97_2078-84delinsTAGGTTCTTTGGAA
ENST00000650226.1:c.5589-61_5589-48delinsTAGGTTCTTTGGAA	ENSP00000496981.1:n.5589-61_5589-48delinsTAGGTTCTTTGGAA
ENST00000281928.7:c.5589-97_5589-84delinsTAGGTTCTTTGGAA	ENSP00000281928.3:n.5589-97_5589-84delinsTAGGTTCTTTGGAA
ENST00000548694.1:n.482_495delinsTAGGTTCTTTGGAA
ENST00000552447.1:c.166-61_166-48delinsTAGGTTCTTTGGAA
NM_015335.4:c.5589-97_5589-84delinsTAGGTTCTTTGGAA	NP_056150.1:n.5589-97_5589-84delinsTAGGTTCTTTGGAA
XM_011538080.1:c.5589-61_5589-48delinsTAGGTTCTTTGGAA	XP_011536382.1:n.5589-61_5589-48delinsTAGGTTCTTTGGAA
XM_011538081.1:c.5586-61_5586-48delinsTAGGTTCTTTGGAA	XP_011536383.1:n.5586-61_5586-48delinsTAGGTTCTTTGGAA
XM_011538082.1:c.5559-61_5559-48delinsTAGGTTCTTTGGAA	XP_011536384.1:n.5559-61_5559-48delinsTAGGTTCTTTGGAA
XM_011538080.2:c.5589-61_5589-48delinsTAGGTTCTTTGGAA	XP_011536382.1:n.5589-61_5589-48delinsTAGGTTCTTTGGAA
XM_011538081.2:c.5586-61_5586-48delinsTAGGTTCTTTGGAA	XP_011536383.1:n.5586-61_5586-48delinsTAGGTTCTTTGGAA
XM_011538082.2:c.5559-61_5559-48delinsTAGGTTCTTTGGAA	XP_011536384.1:n.5559-61_5559-48delinsTAGGTTCTTTGGAA
XM_017019090.1:c.5586-97_5586-84delinsTAGGTTCTTTGGAA	XP_016874579.1:n.5586-97_5586-84delinsTAGGTTCTTTGGAA
NM_015335.5:c.5589-97_5589-84delinsTAGGTTCTTTGGAA MANE Select	NP_056150.1:n.5589-97_5589-84delinsTAGGTTCTTTGGAA