Canonical Allele Identifier: CA2695217440

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982598del , CM000674.2:g.115982598del	GRCh38
NC_000012.11:g.116420403del , CM000674.1:g.116420403del	GRCh37
NC_000012.10:g.114904786del	NCBI36
NG_023366.1:g.299589del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4961del MANE Select	ENSP00000281928.3:p.Thr1654LysfsTer6
ENST00000549786.2:c.4389del
ENST00000648379.1:n.3329del
ENST00000648737.1:n.4725del
ENST00000648825.1:n.1701del
ENST00000648916.1:n.2972del
ENST00000649146.1:n.2204del
ENST00000649607.1:c.3145del
ENST00000649775.1:c.1453-3del
ENST00000650226.1:c.4961del	ENSP00000496981.1:p.Thr1654LysfsTer6
ENST00000281928.7:c.4961del	ENSP00000281928.3:p.Thr1654LysfsTer6
ENST00000549786.1:c.325del
NM_015335.4:c.4961del	NP_056150.1:p.Thr1654LysfsTer6
XM_011538080.1:c.4961del	XP_011536382.1:p.Thr1654LysfsTer6
XM_011538081.1:c.4958del	XP_011536383.1:p.Thr1653LysfsTer6
XM_011538082.1:c.4931del	XP_011536384.1:p.Thr1644LysfsTer6
XM_011538080.2:c.4961del	XP_011536382.1:p.Thr1654LysfsTer6
XM_011538081.2:c.4958del	XP_011536383.1:p.Thr1653LysfsTer6
XM_011538082.2:c.4931del	XP_011536384.1:p.Thr1644LysfsTer6
XM_017019090.1:c.4958del	XP_016874579.1:p.Thr1653LysfsTer6
NM_015335.5:c.4961del MANE Select	NP_056150.1:p.Thr1654LysfsTer6