Canonical Allele Identifier: CA684019759

Gene: MED13L

Linked Data

• dbSNP Id: rs1328836108
• gnomAD v3: 12-116012529-TG-T
• gnomAD v4: 12-116012529-TG-T
• MyVariant Identifiers: chr12:g.116450335del (hg19) ; chr12:g.116012530del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116012530del , CM000674.2:g.116012530del	GRCh38
NC_000012.11:g.116450335del , CM000674.1:g.116450335del	GRCh37
NC_000012.10:g.114934718del	NCBI36
NG_023366.1:g.269657del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.1280+267del MANE Select	ENSP00000281928.3:n.1280+267del
ENST00000548743.2:c.1250+267del	ENSP00000448553.2:n.1250+267del
ENST00000549786.2:c.708+267del
ENST00000647567.1:c.1187+267del	ENSP00000497136.1:n.1187+267del
ENST00000648737.1:n.1044+267del
ENST00000650226.1:c.1280+267del	ENSP00000496981.1:n.1280+267del
ENST00000281928.7:c.1280+267del	ENSP00000281928.3:n.1280+267del
NM_015335.4:c.1280+267del	NP_056150.1:n.1280+267del
XM_011538080.1:c.1280+267del	XP_011536382.1:n.1280+267del
XM_011538081.1:c.1280+267del	XP_011536383.1:n.1280+267del
XM_011538082.1:c.1250+267del	XP_011536384.1:n.1250+267del
XM_011538080.2:c.1280+267del	XP_011536382.1:n.1280+267del
XM_011538081.2:c.1280+267del	XP_011536383.1:n.1280+267del
XM_011538082.2:c.1250+267del	XP_011536384.1:n.1250+267del
XM_017019090.1:c.1280+267del	XP_016874579.1:n.1280+267del
NM_015335.5:c.1280+267del MANE Select	NP_056150.1:n.1280+267del