Canonical Allele Identifier: CA608055668

Gene: MED13L

Linked Data

• dbSNP Id: rs1439206299
• gnomAD v2: 12-116408599-TATCA-T
• gnomAD v4: 12-115970794-TATCA-T
• MyVariant Identifiers: chr12:g.116408600_116408603del (hg19) ; chr12:g.115970795_115970798del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970801_115970804del , CM000674.2:g.115970801_115970804del	GRCh38
NC_000012.11:g.116408606_116408609del , CM000674.1:g.116408606_116408609del	GRCh37
NC_000012.10:g.114892989_114892992del	NCBI36
NG_023366.1:g.311389_311392del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5891-28_5891-25del MANE Select	ENSP00000281928.3:n.5891-28_5891-25del
ENST00000548694.2:n.881-28_881-25del
ENST00000548784.2:n.2105-28_2105-25del
ENST00000648379.1:n.4259-28_4259-25del
ENST00000648737.1:n.5655-28_5655-25del
ENST00000648825.1:n.4076-28_4076-25del
ENST00000648916.1:n.3902-28_3902-25del
ENST00000649607.1:c.4075-28_4075-25del
ENST00000649775.1:c.2380-28_2380-25del
ENST00000650226.1:c.5927-28_5927-25del	ENSP00000496981.1:n.5927-28_5927-25del
ENST00000281928.7:c.5891-28_5891-25del	ENSP00000281928.3:n.5891-28_5891-25del
ENST00000548784.1:n.389-28_389-25del
ENST00000552447.1:c.504-28_504-25del
NM_015335.4:c.5891-28_5891-25del	NP_056150.1:n.5891-28_5891-25del
XM_011538080.1:c.5927-28_5927-25del	XP_011536382.1:n.5927-28_5927-25del
XM_011538081.1:c.5924-28_5924-25del	XP_011536383.1:n.5924-28_5924-25del
XM_011538082.1:c.5897-28_5897-25del	XP_011536384.1:n.5897-28_5897-25del
XM_011538080.2:c.5927-28_5927-25del	XP_011536382.1:n.5927-28_5927-25del
XM_011538081.2:c.5924-28_5924-25del	XP_011536383.1:n.5924-28_5924-25del
XM_011538082.2:c.5897-28_5897-25del	XP_011536384.1:n.5897-28_5897-25del
XM_017019090.1:c.5888-28_5888-25del	XP_016874579.1:n.5888-28_5888-25del
NM_015335.5:c.5891-28_5891-25del MANE Select	NP_056150.1:n.5891-28_5891-25del