Canonical Allele Identifier: CA952187299

Gene: MED13L

Linked Data

• dbSNP Id: rs1877379820
• gnomAD v3: 12-115982277-ATTAACCTGTACTTCCATT-A
• gnomAD v4: 12-115982277-ATTAACCTGTACTTCCATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982280_115982297del , CM000674.2:g.115982280_115982297del	GRCh38
NC_000012.11:g.116420085_116420102del , CM000674.1:g.116420085_116420102del	GRCh37
NC_000012.10:g.114904468_114904485del	NCBI36
NG_023366.1:g.299892_299909del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5175+89_5175+106del MANE Select	ENSP00000281928.3:n.5175+89_5175+106del
ENST00000549786.2:c.4692_4709del
ENST00000648379.1:n.3543+89_3543+106del
ENST00000648737.1:n.4939+89_4939+106del
ENST00000648825.1:n.2004_2021del
ENST00000648916.1:n.3186+89_3186+106del
ENST00000649146.1:n.2507_2524del
ENST00000649607.1:c.3359+89_3359+106del
ENST00000649775.1:c.1664+89_1664+106del
ENST00000650226.1:c.5175+89_5175+106del	ENSP00000496981.1:n.5175+89_5175+106del
ENST00000281928.7:c.5175+89_5175+106del	ENSP00000281928.3:n.5175+89_5175+106del
ENST00000549786.1:c.628_645del
ENST00000552340.1:c.207+89_207+106del	ENSP00000449876.1:n.207+89_207+106del
NM_015335.4:c.5175+89_5175+106del	NP_056150.1:n.5175+89_5175+106del
XM_011538080.1:c.5175+89_5175+106del	XP_011536382.1:n.5175+89_5175+106del
XM_011538081.1:c.5172+89_5172+106del	XP_011536383.1:n.5172+89_5172+106del
XM_011538082.1:c.5145+89_5145+106del	XP_011536384.1:n.5145+89_5145+106del
XM_011538080.2:c.5175+89_5175+106del	XP_011536382.1:n.5175+89_5175+106del
XM_011538081.2:c.5172+89_5172+106del	XP_011536383.1:n.5172+89_5172+106del
XM_011538082.2:c.5145+89_5145+106del	XP_011536384.1:n.5145+89_5145+106del
XM_017019090.1:c.5172+89_5172+106del	XP_016874579.1:n.5172+89_5172+106del
NM_015335.5:c.5175+89_5175+106del MANE Select	NP_056150.1:n.5175+89_5175+106del