Canonical Allele Identifier: CA684019751

Gene: MED13L

Linked Data

• dbSNP Id: rs1197907199
• gnomAD v3: 12-116012499-TTAAA-T
• gnomAD v4: 12-116012499-TTAAA-T
• MyVariant Identifiers: chr12:g.116450305_116450308del (hg19) ; chr12:g.116012500_116012503del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116012504_116012507del , CM000674.2:g.116012504_116012507del	GRCh38
NC_000012.11:g.116450309_116450312del , CM000674.1:g.116450309_116450312del	GRCh37
NC_000012.10:g.114934692_114934695del	NCBI36
NG_023366.1:g.269684_269687del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.1280+294_1280+297del MANE Select	ENSP00000281928.3:n.1280+294_1280+297del
ENST00000548743.2:c.1250+294_1250+297del	ENSP00000448553.2:n.1250+294_1250+297del
ENST00000549786.2:c.708+294_708+297del
ENST00000647567.1:c.1187+294_1187+297del	ENSP00000497136.1:n.1187+294_1187+297del
ENST00000648737.1:n.1044+294_1044+297del
ENST00000650226.1:c.1280+294_1280+297del	ENSP00000496981.1:n.1280+294_1280+297del
ENST00000281928.7:c.1280+294_1280+297del	ENSP00000281928.3:n.1280+294_1280+297del
NM_015335.4:c.1280+294_1280+297del	NP_056150.1:n.1280+294_1280+297del
XM_011538080.1:c.1280+294_1280+297del	XP_011536382.1:n.1280+294_1280+297del
XM_011538081.1:c.1280+294_1280+297del	XP_011536383.1:n.1280+294_1280+297del
XM_011538082.1:c.1250+294_1250+297del	XP_011536384.1:n.1250+294_1250+297del
XM_011538080.2:c.1280+294_1280+297del	XP_011536382.1:n.1280+294_1280+297del
XM_011538081.2:c.1280+294_1280+297del	XP_011536383.1:n.1280+294_1280+297del
XM_011538082.2:c.1250+294_1250+297del	XP_011536384.1:n.1250+294_1250+297del
XM_017019090.1:c.1280+294_1280+297del	XP_016874579.1:n.1280+294_1280+297del
NM_015335.5:c.1280+294_1280+297del MANE Select	NP_056150.1:n.1280+294_1280+297del