Canonical Allele Identifier: CA607650546

Gene: MED13L

Linked Data

• dbSNP Id: rs1246300335
• gnomAD v2: 12-116413182-TATA-T
• gnomAD v4: 12-115975377-TATA-T
• MyVariant Identifiers: chr12:g.116413183_116413185del (hg19) ; chr12:g.115975378_115975380del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975379_115975381del , CM000674.2:g.115975379_115975381del	GRCh38
NC_000012.11:g.116413184_116413186del , CM000674.1:g.116413184_116413186del	GRCh37
NC_000012.10:g.114897567_114897569del	NCBI36
NG_023366.1:g.306807_306809del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5589-67_5589-65del MANE Select	ENSP00000281928.3:n.5589-67_5589-65del
ENST00000548694.2:n.512_514del
ENST00000648379.1:n.3957-67_3957-65del
ENST00000648737.1:n.5353-67_5353-65del
ENST00000648825.1:n.3774-67_3774-65del
ENST00000648916.1:n.3600-67_3600-65del
ENST00000649607.1:c.3773-67_3773-65del
ENST00000649775.1:c.2078-67_2078-65del
ENST00000650226.1:c.5589-31_5589-29del	ENSP00000496981.1:n.5589-31_5589-29del
ENST00000281928.7:c.5589-67_5589-65del	ENSP00000281928.3:n.5589-67_5589-65del
ENST00000548694.1:n.512_514del
ENST00000552447.1:c.166-31_166-29del
NM_015335.4:c.5589-67_5589-65del	NP_056150.1:n.5589-67_5589-65del
XM_011538080.1:c.5589-31_5589-29del	XP_011536382.1:n.5589-31_5589-29del
XM_011538081.1:c.5586-31_5586-29del	XP_011536383.1:n.5586-31_5586-29del
XM_011538082.1:c.5559-31_5559-29del	XP_011536384.1:n.5559-31_5559-29del
XM_011538080.2:c.5589-31_5589-29del	XP_011536382.1:n.5589-31_5589-29del
XM_011538081.2:c.5586-31_5586-29del	XP_011536383.1:n.5586-31_5586-29del
XM_011538082.2:c.5559-31_5559-29del	XP_011536384.1:n.5559-31_5559-29del
XM_017019090.1:c.5586-67_5586-65del	XP_016874579.1:n.5586-67_5586-65del
NM_015335.5:c.5589-67_5589-65del MANE Select	NP_056150.1:n.5589-67_5589-65del