Canonical Allele Identifier: CA607651469

Gene: MED13L

Linked Data

• dbSNP Id: rs1175670427
• gnomAD v2: 12-116420727-CATA-C
• gnomAD v3: 12-115982922-CATA-C
• gnomAD v4: 12-115982922-CATA-C
• MyVariant Identifiers: chr12:g.116420728_116420730del (hg19) ; chr12:g.115982923_115982925del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982928_115982930del , CM000674.2:g.115982928_115982930del	GRCh38
NC_000012.11:g.116420733_116420735del , CM000674.1:g.116420733_116420735del	GRCh37
NC_000012.10:g.114905116_114905118del	NCBI36
NG_023366.1:g.299262_299264del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4955+192_4955+194del MANE Select	ENSP00000281928.3:n.4955+192_4955+194del
ENST00000549786.2:c.4383+192_4383+194del
ENST00000648379.1:n.3323+192_3323+194del
ENST00000648737.1:n.4719+192_4719+194del
ENST00000648825.1:n.1695+192_1695+194del
ENST00000648916.1:n.2966+192_2966+194del
ENST00000649146.1:n.1877_1879del
ENST00000649607.1:c.3139+192_3139+194del
ENST00000649775.1:c.1452+192_1452+194del
ENST00000650226.1:c.4955+192_4955+194del	ENSP00000496981.1:n.4955+192_4955+194del
ENST00000281928.7:c.4955+192_4955+194del	ENSP00000281928.3:n.4955+192_4955+194del
ENST00000549786.1:c.319+192_319+194del
NM_015335.4:c.4955+192_4955+194del	NP_056150.1:n.4955+192_4955+194del
XM_011538080.1:c.4955+192_4955+194del	XP_011536382.1:n.4955+192_4955+194del
XM_011538081.1:c.4952+192_4952+194del	XP_011536383.1:n.4952+192_4952+194del
XM_011538082.1:c.4925+192_4925+194del	XP_011536384.1:n.4925+192_4925+194del
XM_011538080.2:c.4955+192_4955+194del	XP_011536382.1:n.4955+192_4955+194del
XM_011538081.2:c.4952+192_4952+194del	XP_011536383.1:n.4952+192_4952+194del
XM_011538082.2:c.4925+192_4925+194del	XP_011536384.1:n.4925+192_4925+194del
XM_017019090.1:c.4952+192_4952+194del	XP_016874579.1:n.4952+192_4952+194del
NM_015335.5:c.4955+192_4955+194del MANE Select	NP_056150.1:n.4955+192_4955+194del