Canonical Allele Identifier: CA2065380980

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116012499_116012503delinsTTAAA , CM000674.2:g.116012499_116012503delinsTTAAA	GRCh38
NC_000012.11:g.116450304_116450308delinsTTAAA , CM000674.1:g.116450304_116450308delinsTTAAA	GRCh37
NC_000012.10:g.114934687_114934691delinsTTAAA	NCBI36
NG_023366.1:g.269684_269688delinsTTTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.1280+294_1280+298delinsTTTAA MANE Select	ENSP00000281928.3:n.1280+294_1280+298delinsTTTAA
ENST00000548743.2:c.1250+294_1250+298delinsTTTAA	ENSP00000448553.2:n.1250+294_1250+298delinsTTTAA
ENST00000549786.2:c.708+294_708+298delinsTTTAA
ENST00000647567.1:c.1187+294_1187+298delinsTTTAA	ENSP00000497136.1:n.1187+294_1187+298delinsTTTAA
ENST00000648737.1:n.1044+294_1044+298delinsTTTAA
ENST00000650226.1:c.1280+294_1280+298delinsTTTAA	ENSP00000496981.1:n.1280+294_1280+298delinsTTTAA
ENST00000281928.7:c.1280+294_1280+298delinsTTTAA	ENSP00000281928.3:n.1280+294_1280+298delinsTTTAA
NM_015335.4:c.1280+294_1280+298delinsTTTAA	NP_056150.1:n.1280+294_1280+298delinsTTTAA
XM_011538080.1:c.1280+294_1280+298delinsTTTAA	XP_011536382.1:n.1280+294_1280+298delinsTTTAA
XM_011538081.1:c.1280+294_1280+298delinsTTTAA	XP_011536383.1:n.1280+294_1280+298delinsTTTAA
XM_011538082.1:c.1250+294_1250+298delinsTTTAA	XP_011536384.1:n.1250+294_1250+298delinsTTTAA
XM_011538080.2:c.1280+294_1280+298delinsTTTAA	XP_011536382.1:n.1280+294_1280+298delinsTTTAA
XM_011538081.2:c.1280+294_1280+298delinsTTTAA	XP_011536383.1:n.1280+294_1280+298delinsTTTAA
XM_011538082.2:c.1250+294_1250+298delinsTTTAA	XP_011536384.1:n.1250+294_1250+298delinsTTTAA
XM_017019090.1:c.1280+294_1280+298delinsTTTAA	XP_016874579.1:n.1280+294_1280+298delinsTTTAA
NM_015335.5:c.1280+294_1280+298delinsTTTAA MANE Select	NP_056150.1:n.1280+294_1280+298delinsTTTAA