Canonical Allele Identifier: CA2065381182

Gene: MED13L

Linked Data

• dbSNP Id: rs1879481641

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116012624_116012625del , CM000674.2:g.116012624_116012625del	GRCh38
NC_000012.11:g.116450429_116450430del , CM000674.1:g.116450429_116450430del	GRCh37
NC_000012.10:g.114934812_114934813del	NCBI36
NG_023366.1:g.269562_269563del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.1280+172_1280+173del MANE Select	ENSP00000281928.3:n.1280+172_1280+173del
ENST00000548743.2:c.1250+172_1250+173del	ENSP00000448553.2:n.1250+172_1250+173del
ENST00000549786.2:c.708+172_708+173del
ENST00000647567.1:c.1187+172_1187+173del	ENSP00000497136.1:n.1187+172_1187+173del
ENST00000648737.1:n.1044+172_1044+173del
ENST00000650226.1:c.1280+172_1280+173del	ENSP00000496981.1:n.1280+172_1280+173del
ENST00000281928.7:c.1280+172_1280+173del	ENSP00000281928.3:n.1280+172_1280+173del
NM_015335.4:c.1280+172_1280+173del	NP_056150.1:n.1280+172_1280+173del
XM_011538080.1:c.1280+172_1280+173del	XP_011536382.1:n.1280+172_1280+173del
XM_011538081.1:c.1280+172_1280+173del	XP_011536383.1:n.1280+172_1280+173del
XM_011538082.1:c.1250+172_1250+173del	XP_011536384.1:n.1250+172_1250+173del
XM_011538080.2:c.1280+172_1280+173del	XP_011536382.1:n.1280+172_1280+173del
XM_011538081.2:c.1280+172_1280+173del	XP_011536383.1:n.1280+172_1280+173del
XM_011538082.2:c.1250+172_1250+173del	XP_011536384.1:n.1250+172_1250+173del
XM_017019090.1:c.1280+172_1280+173del	XP_016874579.1:n.1280+172_1280+173del
NM_015335.5:c.1280+172_1280+173del MANE Select	NP_056150.1:n.1280+172_1280+173del