Canonical Allele Identifier: CA684031145

Gene: MED13L

Linked Data

• dbSNP Id: rs1391135512
• MyVariant Identifiers: chr12:g.116440631_116440633del (hg19) ; chr12:g.116002826_116002828del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116002828_116002830del , CM000674.2:g.116002828_116002830del	GRCh38
NC_000012.11:g.116440633_116440635del , CM000674.1:g.116440633_116440635del	GRCh37
NC_000012.10:g.114925016_114925018del	NCBI36
NG_023366.1:g.279359_279361del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2569+175_2569+177del MANE Select	ENSP00000281928.3:n.2569+175_2569+177del
ENST00000548743.2:c.2539+175_2539+177del	ENSP00000448553.2:n.2539+175_2539+177del
ENST00000549786.2:c.1997+175_1997+177del
ENST00000648173.1:n.1364+175_1364+177del
ENST00000648379.1:n.937+175_937+177del
ENST00000648737.1:n.2333+175_2333+177del
ENST00000648916.1:n.580+175_580+177del
ENST00000649607.1:c.756+175_756+177del
ENST00000650226.1:c.2569+175_2569+177del	ENSP00000496981.1:n.2569+175_2569+177del
ENST00000281928.7:c.2569+175_2569+177del	ENSP00000281928.3:n.2569+175_2569+177del
NM_015335.4:c.2569+175_2569+177del	NP_056150.1:n.2569+175_2569+177del
XM_011538080.1:c.2569+175_2569+177del	XP_011536382.1:n.2569+175_2569+177del
XM_011538081.1:c.2569+175_2569+177del	XP_011536383.1:n.2569+175_2569+177del
XM_011538082.1:c.2539+175_2539+177del	XP_011536384.1:n.2539+175_2539+177del
XM_011538080.2:c.2569+175_2569+177del	XP_011536382.1:n.2569+175_2569+177del
XM_011538081.2:c.2569+175_2569+177del	XP_011536383.1:n.2569+175_2569+177del
XM_011538082.2:c.2539+175_2539+177del	XP_011536384.1:n.2539+175_2539+177del
XM_017019090.1:c.2569+175_2569+177del	XP_016874579.1:n.2569+175_2569+177del
NM_015335.5:c.2569+175_2569+177del MANE Select	NP_056150.1:n.2569+175_2569+177del