Canonical Allele Identifier: CA244141571

Gene: MED13L

Linked Data

• dbSNP Id: rs200267878
• gnomAD v2: 12-116420694-TAGTA-T
• gnomAD v3: 12-115982889-TAGTA-T
• gnomAD v4: 12-115982889-TAGTA-T
• MyVariant Identifiers: chr12:g.116420695_116420698del (hg19) ; chr12:g.115982890_115982893del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982897_115982900del , CM000674.2:g.115982897_115982900del	GRCh38
NC_000012.11:g.116420702_116420705del , CM000674.1:g.116420702_116420705del	GRCh37
NC_000012.10:g.114905085_114905088del	NCBI36
NG_023366.1:g.299294_299297del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4955+224_4955+227del MANE Select	ENSP00000281928.3:n.4955+224_4955+227del
ENST00000549786.2:c.4383+224_4383+227del
ENST00000648379.1:n.3323+224_3323+227del
ENST00000648737.1:n.4719+224_4719+227del
ENST00000648825.1:n.1695+224_1695+227del
ENST00000648916.1:n.2966+224_2966+227del
ENST00000649146.1:n.1909_1912del
ENST00000649607.1:c.3139+224_3139+227del
ENST00000649775.1:c.1452+224_1452+227del
ENST00000650226.1:c.4955+224_4955+227del	ENSP00000496981.1:n.4955+224_4955+227del
ENST00000281928.7:c.4955+224_4955+227del	ENSP00000281928.3:n.4955+224_4955+227del
ENST00000549786.1:c.319+224_319+227del
NM_015335.4:c.4955+224_4955+227del	NP_056150.1:n.4955+224_4955+227del
XM_011538080.1:c.4955+224_4955+227del	XP_011536382.1:n.4955+224_4955+227del
XM_011538081.1:c.4952+224_4952+227del	XP_011536383.1:n.4952+224_4952+227del
XM_011538082.1:c.4925+224_4925+227del	XP_011536384.1:n.4925+224_4925+227del
XM_011538080.2:c.4955+224_4955+227del	XP_011536382.1:n.4955+224_4955+227del
XM_011538081.2:c.4952+224_4952+227del	XP_011536383.1:n.4952+224_4952+227del
XM_011538082.2:c.4925+224_4925+227del	XP_011536384.1:n.4925+224_4925+227del
XM_017019090.1:c.4952+224_4952+227del	XP_016874579.1:n.4952+224_4952+227del
NM_015335.5:c.4955+224_4955+227del MANE Select	NP_056150.1:n.4955+224_4955+227del