Canonical Allele Identifier: CA2560588957

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970791_115970792del , CM000674.2:g.115970791_115970792del	GRCh38
NC_000012.11:g.116408596_116408597del , CM000674.1:g.116408596_116408597del	GRCh37
NC_000012.10:g.114892979_114892980del	NCBI36
NG_023366.1:g.311395_311396del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5891-22_5891-21del MANE Select	ENSP00000281928.3:n.5891-22_5891-21del
ENST00000548694.2:n.881-22_881-21del
ENST00000548784.2:n.2105-22_2105-21del
ENST00000648379.1:n.4259-22_4259-21del
ENST00000648737.1:n.5655-22_5655-21del
ENST00000648825.1:n.4076-22_4076-21del
ENST00000648916.1:n.3902-22_3902-21del
ENST00000649607.1:c.4075-22_4075-21del
ENST00000649775.1:c.2380-22_2380-21del
ENST00000650226.1:c.5927-22_5927-21del	ENSP00000496981.1:n.5927-22_5927-21del
ENST00000281928.7:c.5891-22_5891-21del	ENSP00000281928.3:n.5891-22_5891-21del
ENST00000548784.1:n.389-22_389-21del
ENST00000552447.1:c.504-22_504-21del
NM_015335.4:c.5891-22_5891-21del	NP_056150.1:n.5891-22_5891-21del
XM_011538080.1:c.5927-22_5927-21del	XP_011536382.1:n.5927-22_5927-21del
XM_011538081.1:c.5924-22_5924-21del	XP_011536383.1:n.5924-22_5924-21del
XM_011538082.1:c.5897-22_5897-21del	XP_011536384.1:n.5897-22_5897-21del
XM_011538080.2:c.5927-22_5927-21del	XP_011536382.1:n.5927-22_5927-21del
XM_011538081.2:c.5924-22_5924-21del	XP_011536383.1:n.5924-22_5924-21del
XM_011538082.2:c.5897-22_5897-21del	XP_011536384.1:n.5897-22_5897-21del
XM_017019090.1:c.5888-22_5888-21del	XP_016874579.1:n.5888-22_5888-21del
NM_015335.5:c.5891-22_5891-21del MANE Select	NP_056150.1:n.5891-22_5891-21del