Canonical Allele Identifier: CA608055739

Gene: MED13L

Linked Data

• dbSNP Id: rs1565993675
• gnomAD v2: 12-116422197-CATTAGTT-C
• gnomAD v4: 12-115984392-CATTAGTT-C
• MyVariant Identifiers: chr12:g.116422198_116422204del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984395_115984401del , CM000674.2:g.115984395_115984401del	GRCh38
NC_000012.11:g.116422200_116422206del , CM000674.1:g.116422200_116422206del	GRCh37
NC_000012.10:g.114906583_114906589del	NCBI36
NG_023366.1:g.297788_297794del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4339-27_4339-21del MANE Select	ENSP00000281928.3:n.4339-27_4339-21del
ENST00000549786.2:c.3767-27_3767-21del
ENST00000648379.1:n.2707-27_2707-21del
ENST00000648737.1:n.4103-27_4103-21del
ENST00000648825.1:n.1079-27_1079-21del
ENST00000648916.1:n.2350-27_2350-21del
ENST00000649146.1:n.1042_1048del
ENST00000649607.1:c.2523-27_2523-21del
ENST00000649775.1:c.836-27_836-21del
ENST00000650091.1:n.2315-27_2315-21del
ENST00000650226.1:c.4339-27_4339-21del	ENSP00000496981.1:n.4339-27_4339-21del
ENST00000281928.7:c.4339-27_4339-21del	ENSP00000281928.3:n.4339-27_4339-21del
NM_015335.4:c.4339-27_4339-21del	NP_056150.1:n.4339-27_4339-21del
XM_011538080.1:c.4339-27_4339-21del	XP_011536382.1:n.4339-27_4339-21del
XM_011538081.1:c.4336-27_4336-21del	XP_011536383.1:n.4336-27_4336-21del
XM_011538082.1:c.4309-27_4309-21del	XP_011536384.1:n.4309-27_4309-21del
XM_011538080.2:c.4339-27_4339-21del	XP_011536382.1:n.4339-27_4339-21del
XM_011538081.2:c.4336-27_4336-21del	XP_011536383.1:n.4336-27_4336-21del
XM_011538082.2:c.4309-27_4309-21del	XP_011536384.1:n.4309-27_4309-21del
XM_017019090.1:c.4336-27_4336-21del	XP_016874579.1:n.4336-27_4336-21del
NM_015335.5:c.4339-27_4339-21del MANE Select	NP_056150.1:n.4339-27_4339-21del