Canonical Allele Identifier: CA2621144789

Gene: MED13L

Linked Data

• gnomAD v4: 12-116003176-T-TATGCCTATTGGTAG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116003183_116003196dup , CM000674.2:g.116003183_116003196dup	GRCh38
NC_000012.11:g.116440988_116441001dup , CM000674.1:g.116440988_116441001dup	GRCh37
NC_000012.10:g.114925371_114925384dup	NCBI36
NG_023366.1:g.278997_279010dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2470-88_2470-75dup MANE Select	ENSP00000281928.3:n.2470-88_2470-75dup
ENST00000548743.2:c.2440-88_2440-75dup	ENSP00000448553.2:n.2440-88_2440-75dup
ENST00000549786.2:c.1898-88_1898-75dup
ENST00000648173.1:n.1265-88_1265-75dup
ENST00000648379.1:n.750_763dup
ENST00000648737.1:n.2234-88_2234-75dup
ENST00000648916.1:n.481-88_481-75dup
ENST00000649607.1:c.657-88_657-75dup
ENST00000650226.1:c.2470-88_2470-75dup	ENSP00000496981.1:n.2470-88_2470-75dup
ENST00000281928.7:c.2470-88_2470-75dup	ENSP00000281928.3:n.2470-88_2470-75dup
NM_015335.4:c.2470-88_2470-75dup	NP_056150.1:n.2470-88_2470-75dup
XM_011538080.1:c.2470-88_2470-75dup	XP_011536382.1:n.2470-88_2470-75dup
XM_011538081.1:c.2470-88_2470-75dup	XP_011536383.1:n.2470-88_2470-75dup
XM_011538082.1:c.2440-88_2440-75dup	XP_011536384.1:n.2440-88_2440-75dup
XM_011538080.2:c.2470-88_2470-75dup	XP_011536382.1:n.2470-88_2470-75dup
XM_011538081.2:c.2470-88_2470-75dup	XP_011536383.1:n.2470-88_2470-75dup
XM_011538082.2:c.2440-88_2440-75dup	XP_011536384.1:n.2440-88_2440-75dup
XM_017019090.1:c.2470-88_2470-75dup	XP_016874579.1:n.2470-88_2470-75dup
NM_015335.5:c.2470-88_2470-75dup MANE Select	NP_056150.1:n.2470-88_2470-75dup