Canonical Allele Identifier: CA645372920

Gene: MED13L

Linked Data

• dbSNP Id: rs1555243059
• MyVariant Identifiers: chr12:g.116420211_116420212del (hg19) ; chr12:g.115982406_115982407del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982408_115982409del , CM000674.2:g.115982408_115982409del	GRCh38
NC_000012.11:g.116420213_116420214del , CM000674.1:g.116420213_116420214del	GRCh37
NC_000012.10:g.114904596_114904597del	NCBI36
NG_023366.1:g.299780_299781del

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.5152_5153del MANE Select	ENSP00000281928.3:p.Met1718GlufsTer21
ENST00000549786.2:c.4580_4581del
ENST00000648379.1:n.3520_3521del
ENST00000648737.1:n.4916_4917del
ENST00000648825.1:n.1892_1893del
ENST00000648916.1:n.3163_3164del
ENST00000649146.1:n.2395_2396del
ENST00000649607.1:c.3336_3337del
ENST00000649775.1:c.1641_1642del
ENST00000650226.1:c.5152_5153del	ENSP00000496981.1:p.Met1718GlufsTer21
ENST00000281928.7:c.5152_5153del	ENSP00000281928.3:p.Met1718GlufsTer21
ENST00000549786.1:c.516_517del
ENST00000552340.1:c.184_185del	ENSP00000449876.1:p.Met62GlufsTer21
NM_015335.4:c.5152_5153del	NP_056150.1:p.Met1718GlufsTer21
XM_011538080.1:c.5152_5153del	XP_011536382.1:p.Met1718GlufsTer21
XM_011538081.1:c.5149_5150del	XP_011536383.1:p.Met1717GlufsTer21
XM_011538082.1:c.5122_5123del	XP_011536384.1:p.Met1708GlufsTer21
XM_011538080.2:c.5152_5153del	XP_011536382.1:p.Met1718GlufsTer21
XM_011538081.2:c.5149_5150del	XP_011536383.1:p.Met1717GlufsTer21
XM_011538082.2:c.5122_5123del	XP_011536384.1:p.Met1708GlufsTer21
XM_017019090.1:c.5149_5150del	XP_016874579.1:p.Met1717GlufsTer21
NM_015335.5:c.5152_5153del MANE Select	NP_056150.1:p.Met1718GlufsTer21