Canonical Allele Identifier: CA2065381417

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116012771_116012779delinsACTATTTTG , CM000674.2:g.116012771_116012779delinsACTATTTTG	GRCh38
NC_000012.11:g.116450576_116450584delinsACTATTTTG , CM000674.1:g.116450576_116450584delinsACTATTTTG	GRCh37
NC_000012.10:g.114934959_114934967delinsACTATTTTG	NCBI36
NG_023366.1:g.269408_269416delinsCAAAATAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.1280+18_1280+26delinsCAAAATAGT MANE Select	ENSP00000281928.3:n.1280+18_1280+26delinsCAAAATAGT
ENST00000548743.2:c.1250+18_1250+26delinsCAAAATAGT	ENSP00000448553.2:n.1250+18_1250+26delinsCAAAATAGT
ENST00000549786.2:c.708+18_708+26delinsCAAAATAGT
ENST00000647567.1:c.1187+18_1187+26delinsCAAAATAGT	ENSP00000497136.1:n.1187+18_1187+26delinsCAAAATAGT
ENST00000648737.1:n.1044+18_1044+26delinsCAAAATAGT
ENST00000650226.1:c.1280+18_1280+26delinsCAAAATAGT	ENSP00000496981.1:n.1280+18_1280+26delinsCAAAATAGT
ENST00000281928.7:c.1280+18_1280+26delinsCAAAATAGT	ENSP00000281928.3:n.1280+18_1280+26delinsCAAAATAGT
NM_015335.4:c.1280+18_1280+26delinsCAAAATAGT	NP_056150.1:n.1280+18_1280+26delinsCAAAATAGT
XM_011538080.1:c.1280+18_1280+26delinsCAAAATAGT	XP_011536382.1:n.1280+18_1280+26delinsCAAAATAGT
XM_011538081.1:c.1280+18_1280+26delinsCAAAATAGT	XP_011536383.1:n.1280+18_1280+26delinsCAAAATAGT
XM_011538082.1:c.1250+18_1250+26delinsCAAAATAGT	XP_011536384.1:n.1250+18_1250+26delinsCAAAATAGT
XM_011538080.2:c.1280+18_1280+26delinsCAAAATAGT	XP_011536382.1:n.1280+18_1280+26delinsCAAAATAGT
XM_011538081.2:c.1280+18_1280+26delinsCAAAATAGT	XP_011536383.1:n.1280+18_1280+26delinsCAAAATAGT
XM_011538082.2:c.1250+18_1250+26delinsCAAAATAGT	XP_011536384.1:n.1250+18_1250+26delinsCAAAATAGT
XM_017019090.1:c.1280+18_1280+26delinsCAAAATAGT	XP_016874579.1:n.1280+18_1280+26delinsCAAAATAGT
NM_015335.5:c.1280+18_1280+26delinsCAAAATAGT MANE Select	NP_056150.1:n.1280+18_1280+26delinsCAAAATAGT