Canonical Allele Identifier: CA2695217446

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991678delinsTT , CM000674.2:g.115991678delinsTT	GRCh38
NC_000012.11:g.116429483delinsTT , CM000674.1:g.116429483delinsTT	GRCh37
NC_000012.10:g.114913866delinsTT	NCBI36
NG_023366.1:g.290509delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3276delinsAA MANE Select	ENSP00000281928.3:p.Asn1093LysfsTer?
ENST00000549786.2:c.2704delinsAA
ENST00000648379.1:n.1644delinsAA
ENST00000648737.1:n.3040delinsAA
ENST00000648825.1:n.16delinsAA
ENST00000648916.1:n.1287delinsAA
ENST00000649607.1:c.1460delinsAA
ENST00000650226.1:c.3276delinsAA	ENSP00000496981.1:p.Asn1093LysfsTer?
ENST00000281928.7:c.3276delinsAA	ENSP00000281928.3:p.Asn1093LysfsTer?
NM_015335.4:c.3276delinsAA	NP_056150.1:p.Asn1093LysfsTer?
XM_011538080.1:c.3276delinsAA	XP_011536382.1:p.Asn1093LysfsTer?
XM_011538081.1:c.3273delinsAA	XP_011536383.1:p.Asn1092LysfsTer?
XM_011538082.1:c.3246delinsAA	XP_011536384.1:p.Asn1083LysfsTer?
XM_011538080.2:c.3276delinsAA	XP_011536382.1:p.Asn1093LysfsTer?
XM_011538081.2:c.3273delinsAA	XP_011536383.1:p.Asn1092LysfsTer?
XM_011538082.2:c.3246delinsAA	XP_011536384.1:p.Asn1083LysfsTer?
XM_017019090.1:c.3273delinsAA	XP_016874579.1:p.Asn1092LysfsTer?
NM_015335.5:c.3276delinsAA MANE Select	NP_056150.1:p.Asn1093LysfsTer?