Canonical Allele Identifier: CA2797588530
Gene: MED13L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115996773_115996774insCACACCCAACAC , CM000674.2:g.115996773_115996774insCACACCCAACAC GRCh38
NC_000012.11:g.116434578_116434579insCACACCCAACAC , CM000674.1:g.116434578_116434579insCACACCCAACAC GRCh37
NC_000012.10:g.114918961_114918962insCACACCCAACAC NCBI36
NG_023366.1:g.285413_285414insGTGTTGGGTGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.2791-93_2791-92insGTGTTGGGTGTG MANE Select ENSP00000281928.3:n.2791-93_2791-92insGTGTTGGGTGTG
ENST00000548743.2:c.2761-93_2761-92insGTGTTGGGTGTG ENSP00000448553.2:n.2761-93_2761-92insGTGTTGGGTGTG
ENST00000549786.2:c.2219-93_2219-92insGTGTTGGGTGTG
ENST00000647927.1:n.3164-93_3164-92insGTGTTGGGTGTG
ENST00000648173.1:n.1586-93_1586-92insGTGTTGGGTGTG
ENST00000648379.1:n.1159-93_1159-92insGTGTTGGGTGTG
ENST00000648737.1:n.2555-93_2555-92insGTGTTGGGTGTG
ENST00000648916.1:n.802-93_802-92insGTGTTGGGTGTG
ENST00000649607.1:c.975-93_975-92insGTGTTGGGTGTG
ENST00000650226.1:c.2791-93_2791-92insGTGTTGGGTGTG ENSP00000496981.1:n.2791-93_2791-92insGTGTTGGGTGTG
ENST00000281928.7:c.2791-93_2791-92insGTGTTGGGTGTG ENSP00000281928.3:n.2791-93_2791-92insGTGTTGGGTGTG
NM_015335.4:c.2791-93_2791-92insGTGTTGGGTGTG NP_056150.1:n.2791-93_2791-92insGTGTTGGGTGTG
XM_011538080.1:c.2791-93_2791-92insGTGTTGGGTGTG XP_011536382.1:n.2791-93_2791-92insGTGTTGGGTGTG
XM_011538081.1:c.2788-93_2788-92insGTGTTGGGTGTG XP_011536383.1:n.2788-93_2788-92insGTGTTGGGTGTG
XM_011538082.1:c.2761-93_2761-92insGTGTTGGGTGTG XP_011536384.1:n.2761-93_2761-92insGTGTTGGGTGTG
XM_011538080.2:c.2791-93_2791-92insGTGTTGGGTGTG XP_011536382.1:n.2791-93_2791-92insGTGTTGGGTGTG
XM_011538081.2:c.2788-93_2788-92insGTGTTGGGTGTG XP_011536383.1:n.2788-93_2788-92insGTGTTGGGTGTG
XM_011538082.2:c.2761-93_2761-92insGTGTTGGGTGTG XP_011536384.1:n.2761-93_2761-92insGTGTTGGGTGTG
XM_017019090.1:c.2788-93_2788-92insGTGTTGGGTGTG XP_016874579.1:n.2788-93_2788-92insGTGTTGGGTGTG
NM_015335.5:c.2791-93_2791-92insGTGTTGGGTGTG MANE Select NP_056150.1:n.2791-93_2791-92insGTGTTGGGTGTG