Canonical Allele Identifier: CA645574582

Gene: MED13L

Linked Data

• COSMIC: COSM6039627

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991767del , CM000674.2:g.115991767del	GRCh38
NC_000012.11:g.116429572del , CM000674.1:g.116429572del	GRCh37
NC_000012.10:g.114913955del	NCBI36
NG_023366.1:g.290424del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3191del MANE Select	ENSP00000281928.3:p.Gly1064AlafsTer?
ENST00000548743.2:c.3161del	ENSP00000448553.2:p.Gly1054AlafsTer?
ENST00000549786.2:c.2619del
ENST00000648173.1:n.1986del
ENST00000648379.1:n.1559del
ENST00000648737.1:n.2955del
ENST00000648916.1:n.1202del
ENST00000649607.1:c.1375del
ENST00000650226.1:c.3191del	ENSP00000496981.1:p.Gly1064AlafsTer?
ENST00000281928.7:c.3191del	ENSP00000281928.3:p.Gly1064AlafsTer?
NM_015335.4:c.3191del	NP_056150.1:p.Gly1064AlafsTer?
XM_011538080.1:c.3191del	XP_011536382.1:p.Gly1064AlafsTer?
XM_011538081.1:c.3188del	XP_011536383.1:p.Gly1063AlafsTer?
XM_011538082.1:c.3161del	XP_011536384.1:p.Gly1054AlafsTer?
XM_011538080.2:c.3191del	XP_011536382.1:p.Gly1064AlafsTer?
XM_011538081.2:c.3188del	XP_011536383.1:p.Gly1063AlafsTer?
XM_011538082.2:c.3161del	XP_011536384.1:p.Gly1054AlafsTer?
XM_017019090.1:c.3188del	XP_016874579.1:p.Gly1063AlafsTer?
NM_015335.5:c.3191del MANE Select	NP_056150.1:p.Gly1064AlafsTer?