Canonical Allele Identifier: CA607651467

Gene: MED13L

Linked Data

• dbSNP Id: rs1431779277
• gnomAD v2: 12-116420725-TTCA-T
• gnomAD v3: 12-115982920-TTCA-T
• gnomAD v4: 12-115982920-TTCA-T
• MyVariant Identifiers: chr12:g.116420726_116420728del (hg19) ; chr12:g.115982921_115982923del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982922_115982924del , CM000674.2:g.115982922_115982924del	GRCh38
NC_000012.11:g.116420727_116420729del , CM000674.1:g.116420727_116420729del	GRCh37
NC_000012.10:g.114905110_114905112del	NCBI36
NG_023366.1:g.299264_299266del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4955+194_4955+196del MANE Select	ENSP00000281928.3:n.4955+194_4955+196del
ENST00000549786.2:c.4383+194_4383+196del
ENST00000648379.1:n.3323+194_3323+196del
ENST00000648737.1:n.4719+194_4719+196del
ENST00000648825.1:n.1695+194_1695+196del
ENST00000648916.1:n.2966+194_2966+196del
ENST00000649146.1:n.1879_1881del
ENST00000649607.1:c.3139+194_3139+196del
ENST00000649775.1:c.1452+194_1452+196del
ENST00000650226.1:c.4955+194_4955+196del	ENSP00000496981.1:n.4955+194_4955+196del
ENST00000281928.7:c.4955+194_4955+196del	ENSP00000281928.3:n.4955+194_4955+196del
ENST00000549786.1:c.319+194_319+196del
NM_015335.4:c.4955+194_4955+196del	NP_056150.1:n.4955+194_4955+196del
XM_011538080.1:c.4955+194_4955+196del	XP_011536382.1:n.4955+194_4955+196del
XM_011538081.1:c.4952+194_4952+196del	XP_011536383.1:n.4952+194_4952+196del
XM_011538082.1:c.4925+194_4925+196del	XP_011536384.1:n.4925+194_4925+196del
XM_011538080.2:c.4955+194_4955+196del	XP_011536382.1:n.4955+194_4955+196del
XM_011538081.2:c.4952+194_4952+196del	XP_011536383.1:n.4952+194_4952+196del
XM_011538082.2:c.4925+194_4925+196del	XP_011536384.1:n.4925+194_4925+196del
XM_017019090.1:c.4952+194_4952+196del	XP_016874579.1:n.4952+194_4952+196del
NM_015335.5:c.4955+194_4955+196del MANE Select	NP_056150.1:n.4955+194_4955+196del