Canonical Allele Identifier: CA2739291743

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991521del , CM000674.2:g.115991521del	GRCh38
NC_000012.11:g.116429326del , CM000674.1:g.116429326del	GRCh37
NC_000012.10:g.114913709del	NCBI36
NG_023366.1:g.290666del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3433del MANE Select	ENSP00000281928.3:p.Val1145SerfsTer24
ENST00000549786.2:c.2861del
ENST00000648379.1:n.1801del
ENST00000648737.1:n.3197del
ENST00000648825.1:n.173del
ENST00000648916.1:n.1444del
ENST00000649607.1:c.1617del
ENST00000650226.1:c.3433del	ENSP00000496981.1:p.Val1145SerfsTer24
ENST00000281928.7:c.3433del	ENSP00000281928.3:p.Val1145SerfsTer24
NM_015335.4:c.3433del	NP_056150.1:p.Val1145SerfsTer24
XM_011538080.1:c.3433del	XP_011536382.1:p.Val1145SerfsTer24
XM_011538081.1:c.3430del	XP_011536383.1:p.Val1144SerfsTer24
XM_011538082.1:c.3403del	XP_011536384.1:p.Val1135SerfsTer24
XM_011538080.2:c.3433del	XP_011536382.1:p.Val1145SerfsTer24
XM_011538081.2:c.3430del	XP_011536383.1:p.Val1144SerfsTer24
XM_011538082.2:c.3403del	XP_011536384.1:p.Val1135SerfsTer24
XM_017019090.1:c.3430del	XP_016874579.1:p.Val1144SerfsTer24
NM_015335.5:c.3433del MANE Select	NP_056150.1:p.Val1145SerfsTer24