Canonical Allele Identifier: CA684019743

Gene: MED13L

Linked Data

• dbSNP Id: rs1465929268
• MyVariant Identifiers: chr12:g.116450289_116450291del (hg19) ; chr12:g.116012484_116012486del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116012484_116012486del , CM000674.2:g.116012484_116012486del	GRCh38
NC_000012.11:g.116450289_116450291del , CM000674.1:g.116450289_116450291del	GRCh37
NC_000012.10:g.114934672_114934674del	NCBI36
NG_023366.1:g.269701_269703del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.1280+311_1280+313del MANE Select	ENSP00000281928.3:n.1280+311_1280+313del
ENST00000548743.2:c.1250+311_1250+313del	ENSP00000448553.2:n.1250+311_1250+313del
ENST00000549786.2:c.708+311_708+313del
ENST00000647567.1:c.1187+311_1187+313del	ENSP00000497136.1:n.1187+311_1187+313del
ENST00000648737.1:n.1044+311_1044+313del
ENST00000650226.1:c.1280+311_1280+313del	ENSP00000496981.1:n.1280+311_1280+313del
ENST00000281928.7:c.1280+311_1280+313del	ENSP00000281928.3:n.1280+311_1280+313del
NM_015335.4:c.1280+311_1280+313del	NP_056150.1:n.1280+311_1280+313del
XM_011538080.1:c.1280+311_1280+313del	XP_011536382.1:n.1280+311_1280+313del
XM_011538081.1:c.1280+311_1280+313del	XP_011536383.1:n.1280+311_1280+313del
XM_011538082.1:c.1250+311_1250+313del	XP_011536384.1:n.1250+311_1250+313del
XM_011538080.2:c.1280+311_1280+313del	XP_011536382.1:n.1280+311_1280+313del
XM_011538081.2:c.1280+311_1280+313del	XP_011536383.1:n.1280+311_1280+313del
XM_011538082.2:c.1250+311_1250+313del	XP_011536384.1:n.1250+311_1250+313del
XM_017019090.1:c.1280+311_1280+313del	XP_016874579.1:n.1280+311_1280+313del
NM_015335.5:c.1280+311_1280+313del MANE Select	NP_056150.1:n.1280+311_1280+313del