Canonical Allele Identifier: CA244136078

Gene: MED13L

Linked Data

• dbSNP Id: rs34478460
• MyVariant Identifiers: chr12:g.116412920del (hg19) ; chr12:g.115975115del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975116del , CM000674.2:g.115975116del	GRCh38
NC_000012.11:g.116412921del , CM000674.1:g.116412921del	GRCh37
NC_000012.10:g.114897304del	NCBI36
NG_023366.1:g.307072del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5731+56del MANE Select	ENSP00000281928.3:n.5731+56del
ENST00000548694.2:n.721+56del
ENST00000648379.1:n.4099+56del
ENST00000648737.1:n.5495+56del
ENST00000648825.1:n.3916+56del
ENST00000648916.1:n.3742+56del
ENST00000649607.1:c.3915+56del
ENST00000649775.1:c.2220+56del
ENST00000650226.1:c.5767+56del	ENSP00000496981.1:n.5767+56del
ENST00000281928.7:c.5731+56del	ENSP00000281928.3:n.5731+56del
ENST00000548694.1:n.721+56del
ENST00000552447.1:c.344+56del
NM_015335.4:c.5731+56del	NP_056150.1:n.5731+56del
XM_011538080.1:c.5767+56del	XP_011536382.1:n.5767+56del
XM_011538081.1:c.5764+56del	XP_011536383.1:n.5764+56del
XM_011538082.1:c.5737+56del	XP_011536384.1:n.5737+56del
XM_011538080.2:c.5767+56del	XP_011536382.1:n.5767+56del
XM_011538081.2:c.5764+56del	XP_011536383.1:n.5764+56del
XM_011538082.2:c.5737+56del	XP_011536384.1:n.5737+56del
XM_017019090.1:c.5728+56del	XP_016874579.1:n.5728+56del
NM_015335.5:c.5731+56del MANE Select	NP_056150.1:n.5731+56del