Canonical Allele Identifier: CA2621142298

Gene: MED13L

Linked Data

• gnomAD v4: 12-115984477-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984482del , CM000674.2:g.115984482del	GRCh38
NC_000012.11:g.116422287del , CM000674.1:g.116422287del	GRCh37
NC_000012.10:g.114906670del	NCBI36
NG_023366.1:g.297709del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4339-106del MANE Select	ENSP00000281928.3:n.4339-106del
ENST00000549786.2:c.3767-106del
ENST00000648379.1:n.2707-106del
ENST00000648737.1:n.4103-106del
ENST00000648825.1:n.1079-106del
ENST00000648916.1:n.2350-106del
ENST00000649146.1:n.963del
ENST00000649607.1:c.2523-106del
ENST00000649775.1:c.836-106del
ENST00000650091.1:n.2315-106del
ENST00000650226.1:c.4339-106del	ENSP00000496981.1:n.4339-106del
ENST00000281928.7:c.4339-106del	ENSP00000281928.3:n.4339-106del
NM_015335.4:c.4339-106del	NP_056150.1:n.4339-106del
XM_011538080.1:c.4339-106del	XP_011536382.1:n.4339-106del
XM_011538081.1:c.4336-106del	XP_011536383.1:n.4336-106del
XM_011538082.1:c.4309-106del	XP_011536384.1:n.4309-106del
XM_011538080.2:c.4339-106del	XP_011536382.1:n.4339-106del
XM_011538081.2:c.4336-106del	XP_011536383.1:n.4336-106del
XM_011538082.2:c.4309-106del	XP_011536384.1:n.4309-106del
XM_017019090.1:c.4336-106del	XP_016874579.1:n.4336-106del
NM_015335.5:c.4339-106del MANE Select	NP_056150.1:n.4339-106del