Canonical Allele Identifier: CA2065381180

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116012623_116012625delinsCTG , CM000674.2:g.116012623_116012625delinsCTG	GRCh38
NC_000012.11:g.116450428_116450430delinsCTG , CM000674.1:g.116450428_116450430delinsCTG	GRCh37
NC_000012.10:g.114934811_114934813delinsCTG	NCBI36
NG_023366.1:g.269562_269564delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.1280+172_1280+174delinsCAG MANE Select	ENSP00000281928.3:n.1280+172_1280+174delinsCAG
ENST00000548743.2:c.1250+172_1250+174delinsCAG	ENSP00000448553.2:n.1250+172_1250+174delinsCAG
ENST00000549786.2:c.708+172_708+174delinsCAG
ENST00000647567.1:c.1187+172_1187+174delinsCAG	ENSP00000497136.1:n.1187+172_1187+174delinsCAG
ENST00000648737.1:n.1044+172_1044+174delinsCAG
ENST00000650226.1:c.1280+172_1280+174delinsCAG	ENSP00000496981.1:n.1280+172_1280+174delinsCAG
ENST00000281928.7:c.1280+172_1280+174delinsCAG	ENSP00000281928.3:n.1280+172_1280+174delinsCAG
NM_015335.4:c.1280+172_1280+174delinsCAG	NP_056150.1:n.1280+172_1280+174delinsCAG
XM_011538080.1:c.1280+172_1280+174delinsCAG	XP_011536382.1:n.1280+172_1280+174delinsCAG
XM_011538081.1:c.1280+172_1280+174delinsCAG	XP_011536383.1:n.1280+172_1280+174delinsCAG
XM_011538082.1:c.1250+172_1250+174delinsCAG	XP_011536384.1:n.1250+172_1250+174delinsCAG
XM_011538080.2:c.1280+172_1280+174delinsCAG	XP_011536382.1:n.1280+172_1280+174delinsCAG
XM_011538081.2:c.1280+172_1280+174delinsCAG	XP_011536383.1:n.1280+172_1280+174delinsCAG
XM_011538082.2:c.1250+172_1250+174delinsCAG	XP_011536384.1:n.1250+172_1250+174delinsCAG
XM_017019090.1:c.1280+172_1280+174delinsCAG	XP_016874579.1:n.1280+172_1280+174delinsCAG
NM_015335.5:c.1280+172_1280+174delinsCAG MANE Select	NP_056150.1:n.1280+172_1280+174delinsCAG