Canonical Allele Identifier: CA2501969624

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975478_115975479insGGA , CM000674.2:g.115975478_115975479insGGA	GRCh38
NC_000012.11:g.116413283_116413284insGGA , CM000674.1:g.116413283_116413284insGGA	GRCh37
NC_000012.10:g.114897666_114897667insGGA	NCBI36
NG_023366.1:g.306708_306709insTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5588+36_5588+37insTCC MANE Select	ENSP00000281928.3:n.5588+36_5588+37insTCC
ENST00000548694.2:n.413_414insTCC
ENST00000648379.1:n.3956+36_3956+37insTCC
ENST00000648737.1:n.5352+36_5352+37insTCC
ENST00000648825.1:n.3773+36_3773+37insTCC
ENST00000648916.1:n.3599+36_3599+37insTCC
ENST00000649607.1:c.3772+36_3772+37insTCC
ENST00000649775.1:c.2077+36_2077+37insTCC
ENST00000650226.1:c.5588+36_5588+37insTCC	ENSP00000496981.1:n.5588+36_5588+37insTCC
ENST00000281928.7:c.5588+36_5588+37insTCC	ENSP00000281928.3:n.5588+36_5588+37insTCC
ENST00000548694.1:n.413_414insTCC
ENST00000552447.1:c.165+36_165+37insTCC
NM_015335.4:c.5588+36_5588+37insTCC	NP_056150.1:n.5588+36_5588+37insTCC
XM_011538080.1:c.5588+36_5588+37insTCC	XP_011536382.1:n.5588+36_5588+37insTCC
XM_011538081.1:c.5585+36_5585+37insTCC	XP_011536383.1:n.5585+36_5585+37insTCC
XM_011538082.1:c.5558+36_5558+37insTCC	XP_011536384.1:n.5558+36_5558+37insTCC
XM_011538080.2:c.5588+36_5588+37insTCC	XP_011536382.1:n.5588+36_5588+37insTCC
XM_011538081.2:c.5585+36_5585+37insTCC	XP_011536383.1:n.5585+36_5585+37insTCC
XM_011538082.2:c.5558+36_5558+37insTCC	XP_011536384.1:n.5558+36_5558+37insTCC
XM_017019090.1:c.5585+36_5585+37insTCC	XP_016874579.1:n.5585+36_5585+37insTCC
NM_015335.5:c.5588+36_5588+37insTCC MANE Select	NP_056150.1:n.5588+36_5588+37insTCC