Canonical Allele Identifier: CA2065412993

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975439_115975440delinsGA , CM000674.2:g.115975439_115975440delinsGA	GRCh38
NC_000012.11:g.116413244_116413245delinsGA , CM000674.1:g.116413244_116413245delinsGA	GRCh37
NC_000012.10:g.114897627_114897628delinsGA	NCBI36
NG_023366.1:g.306747_306748delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5588+75_5588+76delinsTC MANE Select	ENSP00000281928.3:n.5588+75_5588+76delinsTC
ENST00000548694.2:n.452_453delinsTC
ENST00000648379.1:n.3956+75_3956+76delinsTC
ENST00000648737.1:n.5352+75_5352+76delinsTC
ENST00000648825.1:n.3773+75_3773+76delinsTC
ENST00000648916.1:n.3599+75_3599+76delinsTC
ENST00000649607.1:c.3772+75_3772+76delinsTC
ENST00000649775.1:c.2077+75_2077+76delinsTC
ENST00000650226.1:c.5588+75_5588+76delinsTC	ENSP00000496981.1:n.5588+75_5588+76delinsTC
ENST00000281928.7:c.5588+75_5588+76delinsTC	ENSP00000281928.3:n.5588+75_5588+76delinsTC
ENST00000548694.1:n.452_453delinsTC
ENST00000552447.1:c.165+75_165+76delinsTC
NM_015335.4:c.5588+75_5588+76delinsTC	NP_056150.1:n.5588+75_5588+76delinsTC
XM_011538080.1:c.5588+75_5588+76delinsTC	XP_011536382.1:n.5588+75_5588+76delinsTC
XM_011538081.1:c.5585+75_5585+76delinsTC	XP_011536383.1:n.5585+75_5585+76delinsTC
XM_011538082.1:c.5558+75_5558+76delinsTC	XP_011536384.1:n.5558+75_5558+76delinsTC
XM_011538080.2:c.5588+75_5588+76delinsTC	XP_011536382.1:n.5588+75_5588+76delinsTC
XM_011538081.2:c.5585+75_5585+76delinsTC	XP_011536383.1:n.5585+75_5585+76delinsTC
XM_011538082.2:c.5558+75_5558+76delinsTC	XP_011536384.1:n.5558+75_5558+76delinsTC
XM_017019090.1:c.5585+75_5585+76delinsTC	XP_016874579.1:n.5585+75_5585+76delinsTC
NM_015335.5:c.5588+75_5588+76delinsTC MANE Select	NP_056150.1:n.5588+75_5588+76delinsTC