Canonical Allele Identifier: CA2573147988

Gene: MED13L

Linked Data

• ClinVar Variation Id: 1687298
• ClinVar RCV Id: RCV002250980
• dbSNP Id: rs2137306817

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991576del , CM000674.2:g.115991576del	GRCh38
NC_000012.11:g.116429381del , CM000674.1:g.116429381del	GRCh37
NC_000012.10:g.114913764del	NCBI36
NG_023366.1:g.290613del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3380del MANE Select	ENSP00000281928.3:p.Asn1127ThrfsTer12
ENST00000549786.2:c.2808del
ENST00000648379.1:n.1748del
ENST00000648737.1:n.3144del
ENST00000648825.1:n.120del
ENST00000648916.1:n.1391del
ENST00000649607.1:c.1564del
ENST00000650226.1:c.3380del	ENSP00000496981.1:p.Asn1127ThrfsTer12
ENST00000281928.7:c.3380del	ENSP00000281928.3:p.Asn1127ThrfsTer12
NM_015335.4:c.3380del	NP_056150.1:p.Asn1127ThrfsTer12
XM_011538080.1:c.3380del	XP_011536382.1:p.Asn1127ThrfsTer12
XM_011538081.1:c.3377del	XP_011536383.1:p.Asn1126ThrfsTer12
XM_011538082.1:c.3350del	XP_011536384.1:p.Asn1117ThrfsTer12
XM_011538080.2:c.3380del	XP_011536382.1:p.Asn1127ThrfsTer12
XM_011538081.2:c.3377del	XP_011536383.1:p.Asn1126ThrfsTer12
XM_011538082.2:c.3350del	XP_011536384.1:p.Asn1117ThrfsTer12
XM_017019090.1:c.3377del	XP_016874579.1:p.Asn1126ThrfsTer12
NM_015335.5:c.3380del MANE Select	NP_056150.1:p.Asn1127ThrfsTer12