Canonical Allele Identifier: CA6811456

Gene: MED13L

Linked Data

• dbSNP Id: rs773448552
• ExAC: 12:116450576 ACTATTTTG / A
• gnomAD v2: 12-116450576-ACTATTTTG-A
• gnomAD v4: 12-116012771-ACTATTTTG-A
• MyVariant Identifiers: chr12:g.116450577_116450584del (hg19) ; chr12:g.116012772_116012779del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116012773_116012780del , CM000674.2:g.116012773_116012780del	GRCh38
NC_000012.11:g.116450578_116450585del , CM000674.1:g.116450578_116450585del	GRCh37
NC_000012.10:g.114934961_114934968del	NCBI36
NG_023366.1:g.269408_269415del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.1280+18_1280+25del MANE Select	ENSP00000281928.3:n.1280+18_1280+25del
ENST00000548743.2:c.1250+18_1250+25del	ENSP00000448553.2:n.1250+18_1250+25del
ENST00000549786.2:c.708+18_708+25del
ENST00000647567.1:c.1187+18_1187+25del	ENSP00000497136.1:n.1187+18_1187+25del
ENST00000648737.1:n.1044+18_1044+25del
ENST00000650226.1:c.1280+18_1280+25del	ENSP00000496981.1:n.1280+18_1280+25del
ENST00000281928.7:c.1280+18_1280+25del	ENSP00000281928.3:n.1280+18_1280+25del
NM_015335.4:c.1280+18_1280+25del	NP_056150.1:n.1280+18_1280+25del
XM_011538080.1:c.1280+18_1280+25del	XP_011536382.1:n.1280+18_1280+25del
XM_011538081.1:c.1280+18_1280+25del	XP_011536383.1:n.1280+18_1280+25del
XM_011538082.1:c.1250+18_1250+25del	XP_011536384.1:n.1250+18_1250+25del
XM_011538080.2:c.1280+18_1280+25del	XP_011536382.1:n.1280+18_1280+25del
XM_011538081.2:c.1280+18_1280+25del	XP_011536383.1:n.1280+18_1280+25del
XM_011538082.2:c.1250+18_1250+25del	XP_011536384.1:n.1250+18_1250+25del
XM_017019090.1:c.1280+18_1280+25del	XP_016874579.1:n.1280+18_1280+25del
NM_015335.5:c.1280+18_1280+25del MANE Select	NP_056150.1:n.1280+18_1280+25del