Canonical Allele Identifier: CA2602989452

Gene: MED13L

Linked Data

• dbSNP Id: rs2137403426
• gnomAD v3: 12-116012623-C-CT
• gnomAD v4: 12-116012623-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116012624dup , CM000674.2:g.116012624dup	GRCh38
NC_000012.11:g.116450429dup , CM000674.1:g.116450429dup	GRCh37
NC_000012.10:g.114934812dup	NCBI36
NG_023366.1:g.269563dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.1280+173dup MANE Select	ENSP00000281928.3:n.1280+173dup
ENST00000548743.2:c.1250+173dup	ENSP00000448553.2:n.1250+173dup
ENST00000549786.2:c.708+173dup
ENST00000647567.1:c.1187+173dup	ENSP00000497136.1:n.1187+173dup
ENST00000648737.1:n.1044+173dup
ENST00000650226.1:c.1280+173dup	ENSP00000496981.1:n.1280+173dup
ENST00000281928.7:c.1280+173dup	ENSP00000281928.3:n.1280+173dup
NM_015335.4:c.1280+173dup	NP_056150.1:n.1280+173dup
XM_011538080.1:c.1280+173dup	XP_011536382.1:n.1280+173dup
XM_011538081.1:c.1280+173dup	XP_011536383.1:n.1280+173dup
XM_011538082.1:c.1250+173dup	XP_011536384.1:n.1250+173dup
XM_011538080.2:c.1280+173dup	XP_011536382.1:n.1280+173dup
XM_011538081.2:c.1280+173dup	XP_011536383.1:n.1280+173dup
XM_011538082.2:c.1250+173dup	XP_011536384.1:n.1250+173dup
XM_017019090.1:c.1280+173dup	XP_016874579.1:n.1280+173dup
NM_015335.5:c.1280+173dup MANE Select	NP_056150.1:n.1280+173dup