Canonical Allele Identifier: CA2065365411

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116003136_116003139delinsCGTG , CM000674.2:g.116003136_116003139delinsCGTG	GRCh38
NC_000012.11:g.116440941_116440944delinsCGTG , CM000674.1:g.116440941_116440944delinsCGTG	GRCh37
NC_000012.10:g.114925324_114925327delinsCGTG	NCBI36
NG_023366.1:g.279048_279051delinsCACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2470-37_2470-34delinsCACG MANE Select	ENSP00000281928.3:n.2470-37_2470-34delinsCACG
ENST00000548743.2:c.2440-37_2440-34delinsCACG	ENSP00000448553.2:n.2440-37_2440-34delinsCACG
ENST00000549786.2:c.1898-37_1898-34delinsCACG
ENST00000648173.1:n.1265-37_1265-34delinsCACG
ENST00000648379.1:n.801_804delinsCACG
ENST00000648737.1:n.2234-37_2234-34delinsCACG
ENST00000648916.1:n.481-37_481-34delinsCACG
ENST00000649607.1:c.657-37_657-34delinsCACG
ENST00000650226.1:c.2470-37_2470-34delinsCACG	ENSP00000496981.1:n.2470-37_2470-34delinsCACG
ENST00000281928.7:c.2470-37_2470-34delinsCACG	ENSP00000281928.3:n.2470-37_2470-34delinsCACG
NM_015335.4:c.2470-37_2470-34delinsCACG	NP_056150.1:n.2470-37_2470-34delinsCACG
XM_011538080.1:c.2470-37_2470-34delinsCACG	XP_011536382.1:n.2470-37_2470-34delinsCACG
XM_011538081.1:c.2470-37_2470-34delinsCACG	XP_011536383.1:n.2470-37_2470-34delinsCACG
XM_011538082.1:c.2440-37_2440-34delinsCACG	XP_011536384.1:n.2440-37_2440-34delinsCACG
XM_011538080.2:c.2470-37_2470-34delinsCACG	XP_011536382.1:n.2470-37_2470-34delinsCACG
XM_011538081.2:c.2470-37_2470-34delinsCACG	XP_011536383.1:n.2470-37_2470-34delinsCACG
XM_011538082.2:c.2440-37_2440-34delinsCACG	XP_011536384.1:n.2440-37_2440-34delinsCACG
XM_017019090.1:c.2470-37_2470-34delinsCACG	XP_016874579.1:n.2470-37_2470-34delinsCACG
NM_015335.5:c.2470-37_2470-34delinsCACG MANE Select	NP_056150.1:n.2470-37_2470-34delinsCACG