Canonical Allele Identifier: CA607650556

Gene: MED13L

Linked Data

• dbSNP Id: rs1255688652
• gnomAD v2: 12-116413202-TTCCAAAGAACCTA-T
• MyVariant Identifiers: chr12:g.116413203_116413215del (hg19) ; chr12:g.115975398_115975410del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975402_115975414del , CM000674.2:g.115975402_115975414del	GRCh38
NC_000012.11:g.116413207_116413219del , CM000674.1:g.116413207_116413219del	GRCh37
NC_000012.10:g.114897590_114897602del	NCBI36
NG_023366.1:g.306777_306789del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5589-97_5589-85del MANE Select	ENSP00000281928.3:n.5589-97_5589-85del
ENST00000548694.2:n.482_494del
ENST00000648379.1:n.3957-97_3957-85del
ENST00000648737.1:n.5353-97_5353-85del
ENST00000648825.1:n.3774-97_3774-85del
ENST00000648916.1:n.3600-97_3600-85del
ENST00000649607.1:c.3773-97_3773-85del
ENST00000649775.1:c.2078-97_2078-85del
ENST00000650226.1:c.5589-61_5589-49del	ENSP00000496981.1:n.5589-61_5589-49del
ENST00000281928.7:c.5589-97_5589-85del	ENSP00000281928.3:n.5589-97_5589-85del
ENST00000548694.1:n.482_494del
ENST00000552447.1:c.166-61_166-49del
NM_015335.4:c.5589-97_5589-85del	NP_056150.1:n.5589-97_5589-85del
XM_011538080.1:c.5589-61_5589-49del	XP_011536382.1:n.5589-61_5589-49del
XM_011538081.1:c.5586-61_5586-49del	XP_011536383.1:n.5586-61_5586-49del
XM_011538082.1:c.5559-61_5559-49del	XP_011536384.1:n.5559-61_5559-49del
XM_011538080.2:c.5589-61_5589-49del	XP_011536382.1:n.5589-61_5589-49del
XM_011538081.2:c.5586-61_5586-49del	XP_011536383.1:n.5586-61_5586-49del
XM_011538082.2:c.5559-61_5559-49del	XP_011536384.1:n.5559-61_5559-49del
XM_017019090.1:c.5586-97_5586-85del	XP_016874579.1:n.5586-97_5586-85del
NM_015335.5:c.5589-97_5589-85del MANE Select	NP_056150.1:n.5589-97_5589-85del