Canonical Allele Identifier: CA684017818

Gene: MED13L

Linked Data

• dbSNP Id: rs1434241410
• gnomAD v3: 12-115982091-CACA-C
• gnomAD v4: 12-115982091-CACA-C
• MyVariant Identifiers: chr12:g.116419897_116419899del (hg19) ; chr12:g.115982092_115982094del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982095_115982097del , CM000674.2:g.115982095_115982097del	GRCh38
NC_000012.11:g.116419900_116419902del , CM000674.1:g.116419900_116419902del	GRCh37
NC_000012.10:g.114904283_114904285del	NCBI36
NG_023366.1:g.300093_300095del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5175+290_5175+292del MANE Select	ENSP00000281928.3:n.5175+290_5175+292del
ENST00000549786.2:c.4893_4895del
ENST00000648379.1:n.3543+290_3543+292del
ENST00000648737.1:n.4939+290_4939+292del
ENST00000648825.1:n.2205_2207del
ENST00000648916.1:n.3186+290_3186+292del
ENST00000649146.1:n.2708_2710del
ENST00000649607.1:c.3359+290_3359+292del
ENST00000649775.1:c.1664+290_1664+292del
ENST00000650226.1:c.5175+290_5175+292del	ENSP00000496981.1:n.5175+290_5175+292del
ENST00000281928.7:c.5175+290_5175+292del	ENSP00000281928.3:n.5175+290_5175+292del
ENST00000549786.1:c.829_831del
ENST00000552340.1:c.207+290_207+292del	ENSP00000449876.1:n.207+290_207+292del
NM_015335.4:c.5175+290_5175+292del	NP_056150.1:n.5175+290_5175+292del
XM_011538080.1:c.5175+290_5175+292del	XP_011536382.1:n.5175+290_5175+292del
XM_011538081.1:c.5172+290_5172+292del	XP_011536383.1:n.5172+290_5172+292del
XM_011538082.1:c.5145+290_5145+292del	XP_011536384.1:n.5145+290_5145+292del
XM_011538080.2:c.5175+290_5175+292del	XP_011536382.1:n.5175+290_5175+292del
XM_011538081.2:c.5172+290_5172+292del	XP_011536383.1:n.5172+290_5172+292del
XM_011538082.2:c.5145+290_5145+292del	XP_011536384.1:n.5145+290_5145+292del
XM_017019090.1:c.5172+290_5172+292del	XP_016874579.1:n.5172+290_5172+292del
NM_015335.5:c.5175+290_5175+292del MANE Select	NP_056150.1:n.5175+290_5175+292del