Canonical Allele Identifier: CA2065380991

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116012504_116012505delinsTA , CM000674.2:g.116012504_116012505delinsTA	GRCh38
NC_000012.11:g.116450309_116450310delinsTA , CM000674.1:g.116450309_116450310delinsTA	GRCh37
NC_000012.10:g.114934692_114934693delinsTA	NCBI36
NG_023366.1:g.269682_269683delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.1280+292_1280+293delinsTA MANE Select	ENSP00000281928.3:n.1280+292_1280+293delinsTA
ENST00000548743.2:c.1250+292_1250+293delinsTA	ENSP00000448553.2:n.1250+292_1250+293delinsTA
ENST00000549786.2:c.708+292_708+293delinsTA
ENST00000647567.1:c.1187+292_1187+293delinsTA	ENSP00000497136.1:n.1187+292_1187+293delinsTA
ENST00000648737.1:n.1044+292_1044+293delinsTA
ENST00000650226.1:c.1280+292_1280+293delinsTA	ENSP00000496981.1:n.1280+292_1280+293delinsTA
ENST00000281928.7:c.1280+292_1280+293delinsTA	ENSP00000281928.3:n.1280+292_1280+293delinsTA
NM_015335.4:c.1280+292_1280+293delinsTA	NP_056150.1:n.1280+292_1280+293delinsTA
XM_011538080.1:c.1280+292_1280+293delinsTA	XP_011536382.1:n.1280+292_1280+293delinsTA
XM_011538081.1:c.1280+292_1280+293delinsTA	XP_011536383.1:n.1280+292_1280+293delinsTA
XM_011538082.1:c.1250+292_1250+293delinsTA	XP_011536384.1:n.1250+292_1250+293delinsTA
XM_011538080.2:c.1280+292_1280+293delinsTA	XP_011536382.1:n.1280+292_1280+293delinsTA
XM_011538081.2:c.1280+292_1280+293delinsTA	XP_011536383.1:n.1280+292_1280+293delinsTA
XM_011538082.2:c.1250+292_1250+293delinsTA	XP_011536384.1:n.1250+292_1250+293delinsTA
XM_017019090.1:c.1280+292_1280+293delinsTA	XP_016874579.1:n.1280+292_1280+293delinsTA
NM_015335.5:c.1280+292_1280+293delinsTA MANE Select	NP_056150.1:n.1280+292_1280+293delinsTA