Canonical Allele Identifier: CA2065365704

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116003279_116003280delinsTG , CM000674.2:g.116003279_116003280delinsTG	GRCh38
NC_000012.11:g.116441084_116441085delinsTG , CM000674.1:g.116441084_116441085delinsTG	GRCh37
NC_000012.10:g.114925467_114925468delinsTG	NCBI36
NG_023366.1:g.278907_278908delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2470-178_2470-177delinsCA MANE Select	ENSP00000281928.3:n.2470-178_2470-177delinsCA
ENST00000548743.2:c.2440-178_2440-177delinsCA	ENSP00000448553.2:n.2440-178_2440-177delinsCA
ENST00000549786.2:c.1898-178_1898-177delinsCA
ENST00000648173.1:n.1265-178_1265-177delinsCA
ENST00000648379.1:n.660_661delinsCA
ENST00000648737.1:n.2234-178_2234-177delinsCA
ENST00000648916.1:n.481-178_481-177delinsCA
ENST00000649607.1:c.657-178_657-177delinsCA
ENST00000650226.1:c.2470-178_2470-177delinsCA	ENSP00000496981.1:n.2470-178_2470-177delinsCA
ENST00000281928.7:c.2470-178_2470-177delinsCA	ENSP00000281928.3:n.2470-178_2470-177delinsCA
NM_015335.4:c.2470-178_2470-177delinsCA	NP_056150.1:n.2470-178_2470-177delinsCA
XM_011538080.1:c.2470-178_2470-177delinsCA	XP_011536382.1:n.2470-178_2470-177delinsCA
XM_011538081.1:c.2470-178_2470-177delinsCA	XP_011536383.1:n.2470-178_2470-177delinsCA
XM_011538082.1:c.2440-178_2440-177delinsCA	XP_011536384.1:n.2440-178_2440-177delinsCA
XM_011538080.2:c.2470-178_2470-177delinsCA	XP_011536382.1:n.2470-178_2470-177delinsCA
XM_011538081.2:c.2470-178_2470-177delinsCA	XP_011536383.1:n.2470-178_2470-177delinsCA
XM_011538082.2:c.2440-178_2440-177delinsCA	XP_011536384.1:n.2440-178_2440-177delinsCA
XM_017019090.1:c.2470-178_2470-177delinsCA	XP_016874579.1:n.2470-178_2470-177delinsCA
NM_015335.5:c.2470-178_2470-177delinsCA MANE Select	NP_056150.1:n.2470-178_2470-177delinsCA