Canonical Allele Identifier: CA658790720

Gene: MED13L

Linked Data

• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991685del , CM000674.2:g.115991685del	GRCh38
NC_000012.11:g.116429490del , CM000674.1:g.116429490del	GRCh37
NC_000012.10:g.114913873del	NCBI36
NG_023366.1:g.290503del

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.3270del MANE Select	ENSP00000281928.3:p.Leu1092SerfsTer22
ENST00000548743.2:c.3240del	ENSP00000448553.2:p.Arg1080=
ENST00000549786.2:c.2698del
ENST00000648379.1:n.1638del
ENST00000648737.1:n.3034del
ENST00000648825.1:n.10del
ENST00000648916.1:n.1281del
ENST00000649607.1:c.1454del
ENST00000650226.1:c.3270del	ENSP00000496981.1:p.Leu1092SerfsTer22
ENST00000281928.7:c.3270del	ENSP00000281928.3:p.Leu1092SerfsTer22
NM_015335.4:c.3270del	NP_056150.1:p.Leu1092SerfsTer22
XM_011538080.1:c.3270del	XP_011536382.1:p.Leu1092SerfsTer22
XM_011538081.1:c.3267del	XP_011536383.1:p.Leu1091SerfsTer22
XM_011538082.1:c.3240del	XP_011536384.1:p.Leu1082SerfsTer22
XM_011538080.2:c.3270del	XP_011536382.1:p.Leu1092SerfsTer22
XM_011538081.2:c.3267del	XP_011536383.1:p.Leu1091SerfsTer22
XM_011538082.2:c.3240del	XP_011536384.1:p.Leu1082SerfsTer22
XM_017019090.1:c.3267del	XP_016874579.1:p.Leu1091SerfsTer22
NM_015335.5:c.3270del MANE Select	NP_056150.1:p.Leu1092SerfsTer22