Canonical Allele Identifier: CA2797589550

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984510_115984511insACACC , CM000674.2:g.115984510_115984511insACACC	GRCh38
NC_000012.11:g.116422315_116422316insACACC , CM000674.1:g.116422315_116422316insACACC	GRCh37
NC_000012.10:g.114906698_114906699insACACC	NCBI36
NG_023366.1:g.297677_297678insGTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4339-138_4339-137insGTGTG MANE Select	ENSP00000281928.3:n.4339-138_4339-137insGTGTG
ENST00000549786.2:c.3767-138_3767-137insGTGTG
ENST00000648379.1:n.2707-138_2707-137insGTGTG
ENST00000648737.1:n.4103-138_4103-137insGTGTG
ENST00000648825.1:n.1079-138_1079-137insGTGTG
ENST00000648916.1:n.2350-138_2350-137insGTGTG
ENST00000649146.1:n.931_932insGTGTG
ENST00000649607.1:c.2523-138_2523-137insGTGTG
ENST00000649775.1:c.836-138_836-137insGTGTG
ENST00000650091.1:n.2315-138_2315-137insGTGTG
ENST00000650226.1:c.4339-138_4339-137insGTGTG	ENSP00000496981.1:n.4339-138_4339-137insGTGTG
ENST00000281928.7:c.4339-138_4339-137insGTGTG	ENSP00000281928.3:n.4339-138_4339-137insGTGTG
NM_015335.4:c.4339-138_4339-137insGTGTG	NP_056150.1:n.4339-138_4339-137insGTGTG
XM_011538080.1:c.4339-138_4339-137insGTGTG	XP_011536382.1:n.4339-138_4339-137insGTGTG
XM_011538081.1:c.4336-138_4336-137insGTGTG	XP_011536383.1:n.4336-138_4336-137insGTGTG
XM_011538082.1:c.4309-138_4309-137insGTGTG	XP_011536384.1:n.4309-138_4309-137insGTGTG
XM_011538080.2:c.4339-138_4339-137insGTGTG	XP_011536382.1:n.4339-138_4339-137insGTGTG
XM_011538081.2:c.4336-138_4336-137insGTGTG	XP_011536383.1:n.4336-138_4336-137insGTGTG
XM_011538082.2:c.4309-138_4309-137insGTGTG	XP_011536384.1:n.4309-138_4309-137insGTGTG
XM_017019090.1:c.4336-138_4336-137insGTGTG	XP_016874579.1:n.4336-138_4336-137insGTGTG
NM_015335.5:c.4339-138_4339-137insGTGTG MANE Select	NP_056150.1:n.4339-138_4339-137insGTGTG