Canonical Allele Identifier: CA2797589521
Gene: MED13L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115982668_115982669insCCCAAACACACCCAACAC , CM000674.2:g.115982668_115982669insCCCAAACACACCCAACAC GRCh38
NC_000012.11:g.116420473_116420474insCCCAAACACACCCAACAC , CM000674.1:g.116420473_116420474insCCCAAACACACCCAACAC GRCh37
NC_000012.10:g.114904856_114904857insCCCAAACACACCCAACAC NCBI36
NG_023366.1:g.299518_299519insGTGTTGGGTGTGTTTGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.4956-66_4956-65insGTGTTGGGTGTGTTTGGG MANE Select ENSP00000281928.3:n.4956-66_4956-65insGTGTTGGGTGTGTTTGGG
ENST00000549786.2:c.4384-66_4384-65insGTGTTGGGTGTGTTTGGG
ENST00000648379.1:n.3324-66_3324-65insGTGTTGGGTGTGTTTGGG
ENST00000648737.1:n.4720-66_4720-65insGTGTTGGGTGTGTTTGGG
ENST00000648825.1:n.1696-66_1696-65insGTGTTGGGTGTGTTTGGG
ENST00000648916.1:n.2967-66_2967-65insGTGTTGGGTGTGTTTGGG
ENST00000649146.1:n.2133_2134insGTGTTGGGTGTGTTTGGG
ENST00000649607.1:c.3140-66_3140-65insGTGTTGGGTGTGTTTGGG
ENST00000649775.1:c.1453-74_1453-73insGTGTTGGGTGTGTTTGGG
ENST00000650226.1:c.4956-66_4956-65insGTGTTGGGTGTGTTTGGG ENSP00000496981.1:n.4956-66_4956-65insGTGTTGGGTGTGTTTGGG
ENST00000281928.7:c.4956-66_4956-65insGTGTTGGGTGTGTTTGGG ENSP00000281928.3:n.4956-66_4956-65insGTGTTGGGTGTGTTTGGG
ENST00000549786.1:c.320-66_320-65insGTGTTGGGTGTGTTTGGG
NM_015335.4:c.4956-66_4956-65insGTGTTGGGTGTGTTTGGG NP_056150.1:n.4956-66_4956-65insGTGTTGGGTGTGTTTGGG
XM_011538080.1:c.4956-66_4956-65insGTGTTGGGTGTGTTTGGG XP_011536382.1:n.4956-66_4956-65insGTGTTGGGTGTGTTTGGG
XM_011538081.1:c.4953-66_4953-65insGTGTTGGGTGTGTTTGGG XP_011536383.1:n.4953-66_4953-65insGTGTTGGGTGTGTTTGGG
XM_011538082.1:c.4926-66_4926-65insGTGTTGGGTGTGTTTGGG XP_011536384.1:n.4926-66_4926-65insGTGTTGGGTGTGTTTGGG
XM_011538080.2:c.4956-66_4956-65insGTGTTGGGTGTGTTTGGG XP_011536382.1:n.4956-66_4956-65insGTGTTGGGTGTGTTTGGG
XM_011538081.2:c.4953-66_4953-65insGTGTTGGGTGTGTTTGGG XP_011536383.1:n.4953-66_4953-65insGTGTTGGGTGTGTTTGGG
XM_011538082.2:c.4926-66_4926-65insGTGTTGGGTGTGTTTGGG XP_011536384.1:n.4926-66_4926-65insGTGTTGGGTGTGTTTGGG
XM_017019090.1:c.4953-66_4953-65insGTGTTGGGTGTGTTTGGG XP_016874579.1:n.4953-66_4953-65insGTGTTGGGTGTGTTTGGG
NM_015335.5:c.4956-66_4956-65insGTGTTGGGTGTGTTTGGG MANE Select NP_056150.1:n.4956-66_4956-65insGTGTTGGGTGTGTTTGGG