Canonical Allele Identifier: CA244142631

Gene: MED13L

Linked Data

• dbSNP Id: rs1041344157
• gnomAD v3: 12-115984412-ATTCC-A
• gnomAD v4: 12-115984412-ATTCC-A
• MyVariant Identifiers: chr12:g.116422218_116422221del (hg19) ; chr12:g.115984413_115984416del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984416_115984419del , CM000674.2:g.115984416_115984419del	GRCh38
NC_000012.11:g.116422221_116422224del , CM000674.1:g.116422221_116422224del	GRCh37
NC_000012.10:g.114906604_114906607del	NCBI36
NG_023366.1:g.297771_297774del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4339-44_4339-41del MANE Select	ENSP00000281928.3:n.4339-44_4339-41del
ENST00000549786.2:c.3767-44_3767-41del
ENST00000648379.1:n.2707-44_2707-41del
ENST00000648737.1:n.4103-44_4103-41del
ENST00000648825.1:n.1079-44_1079-41del
ENST00000648916.1:n.2350-44_2350-41del
ENST00000649146.1:n.1025_1028del
ENST00000649607.1:c.2523-44_2523-41del
ENST00000649775.1:c.836-44_836-41del
ENST00000650091.1:n.2315-44_2315-41del
ENST00000650226.1:c.4339-44_4339-41del	ENSP00000496981.1:n.4339-44_4339-41del
ENST00000281928.7:c.4339-44_4339-41del	ENSP00000281928.3:n.4339-44_4339-41del
NM_015335.4:c.4339-44_4339-41del	NP_056150.1:n.4339-44_4339-41del
XM_011538080.1:c.4339-44_4339-41del	XP_011536382.1:n.4339-44_4339-41del
XM_011538081.1:c.4336-44_4336-41del	XP_011536383.1:n.4336-44_4336-41del
XM_011538082.1:c.4309-44_4309-41del	XP_011536384.1:n.4309-44_4309-41del
XM_011538080.2:c.4339-44_4339-41del	XP_011536382.1:n.4339-44_4339-41del
XM_011538081.2:c.4336-44_4336-41del	XP_011536383.1:n.4336-44_4336-41del
XM_011538082.2:c.4309-44_4309-41del	XP_011536384.1:n.4309-44_4309-41del
XM_017019090.1:c.4336-44_4336-41del	XP_016874579.1:n.4336-44_4336-41del
NM_015335.5:c.4339-44_4339-41del MANE Select	NP_056150.1:n.4339-44_4339-41del