Canonical Allele Identifier: CA2065412966

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975376_115975389delinsTTATAAGACAAACA , CM000674.2:g.115975376_115975389delinsTTATAAGACAAACA	GRCh38
NC_000012.11:g.116413181_116413194delinsTTATAAGACAAACA , CM000674.1:g.116413181_116413194delinsTTATAAGACAAACA	GRCh37
NC_000012.10:g.114897564_114897577delinsTTATAAGACAAACA	NCBI36
NG_023366.1:g.306798_306811delinsTGTTTGTCTTATAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5589-76_5589-63delinsTGTTTGTCTTATAA MANE Select	ENSP00000281928.3:n.5589-76_5589-63delinsTGTTTGTCTTATAA
ENST00000548694.2:n.503_516delinsTGTTTGTCTTATAA
ENST00000648379.1:n.3957-76_3957-63delinsTGTTTGTCTTATAA
ENST00000648737.1:n.5353-76_5353-63delinsTGTTTGTCTTATAA
ENST00000648825.1:n.3774-76_3774-63delinsTGTTTGTCTTATAA
ENST00000648916.1:n.3600-76_3600-63delinsTGTTTGTCTTATAA
ENST00000649607.1:c.3773-76_3773-63delinsTGTTTGTCTTATAA
ENST00000649775.1:c.2078-76_2078-63delinsTGTTTGTCTTATAA
ENST00000650226.1:c.5589-40_5589-27delinsTGTTTGTCTTATAA	ENSP00000496981.1:n.5589-40_5589-27delinsTGTTTGTCTTATAA
ENST00000281928.7:c.5589-76_5589-63delinsTGTTTGTCTTATAA	ENSP00000281928.3:n.5589-76_5589-63delinsTGTTTGTCTTATAA
ENST00000548694.1:n.503_516delinsTGTTTGTCTTATAA
ENST00000552447.1:c.166-40_166-27delinsTGTTTGTCTTATAA
NM_015335.4:c.5589-76_5589-63delinsTGTTTGTCTTATAA	NP_056150.1:n.5589-76_5589-63delinsTGTTTGTCTTATAA
XM_011538080.1:c.5589-40_5589-27delinsTGTTTGTCTTATAA	XP_011536382.1:n.5589-40_5589-27delinsTGTTTGTCTTATAA
XM_011538081.1:c.5586-40_5586-27delinsTGTTTGTCTTATAA	XP_011536383.1:n.5586-40_5586-27delinsTGTTTGTCTTATAA
XM_011538082.1:c.5559-40_5559-27delinsTGTTTGTCTTATAA	XP_011536384.1:n.5559-40_5559-27delinsTGTTTGTCTTATAA
XM_011538080.2:c.5589-40_5589-27delinsTGTTTGTCTTATAA	XP_011536382.1:n.5589-40_5589-27delinsTGTTTGTCTTATAA
XM_011538081.2:c.5586-40_5586-27delinsTGTTTGTCTTATAA	XP_011536383.1:n.5586-40_5586-27delinsTGTTTGTCTTATAA
XM_011538082.2:c.5559-40_5559-27delinsTGTTTGTCTTATAA	XP_011536384.1:n.5559-40_5559-27delinsTGTTTGTCTTATAA
XM_017019090.1:c.5586-76_5586-63delinsTGTTTGTCTTATAA	XP_016874579.1:n.5586-76_5586-63delinsTGTTTGTCTTATAA
NM_015335.5:c.5589-76_5589-63delinsTGTTTGTCTTATAA MANE Select	NP_056150.1:n.5589-76_5589-63delinsTGTTTGTCTTATAA