Canonical Allele Identifier: CA2575306866

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116012899del , CM000674.2:g.116012899del	GRCh38
NC_000012.11:g.116450704del , CM000674.1:g.116450704del	GRCh37
NC_000012.10:g.114935087del	NCBI36
NG_023366.1:g.269289del

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.1179del MANE Select	ENSP00000281928.3:p.Ser394AlafsTer?
ENST00000548743.2:c.1149del	ENSP00000448553.2:p.Ser384AlafsTer?
ENST00000549786.2:c.607del
ENST00000647567.1:c.1086del
ENST00000648737.1:n.943del
ENST00000650226.1:c.1179del	ENSP00000496981.1:p.Ser394AlafsTer?
ENST00000281928.7:c.1179del	ENSP00000281928.3:p.Ser394AlafsTer?
NM_015335.4:c.1179del	NP_056150.1:p.Ser394AlafsTer?
XM_011538080.1:c.1179del	XP_011536382.1:p.Ser394AlafsTer?
XM_011538081.1:c.1179del	XP_011536383.1:p.Ser394AlafsTer?
XM_011538082.1:c.1149del	XP_011536384.1:p.Ser384AlafsTer?
XM_011538080.2:c.1179del	XP_011536382.1:p.Ser394AlafsTer?
XM_011538081.2:c.1179del	XP_011536383.1:p.Ser394AlafsTer?
XM_011538082.2:c.1149del	XP_011536384.1:p.Ser384AlafsTer?
XM_017019090.1:c.1179del	XP_016874579.1:p.Ser394AlafsTer?
NM_015335.5:c.1179del MANE Select	NP_056150.1:p.Ser394AlafsTer?