Canonical Allele Identifier: CA6810690

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2415996
• ClinVar RCV Id: RCV003105208
• dbSNP Id: rs778820767
• ExAC: 12:116420411 GGA / G
• gnomAD v2: 12-116420411-GGA-G
• gnomAD v3: 12-115982606-GGA-G
• gnomAD v4: 12-115982606-GGA-G
• MyVariant Identifiers: chr12:g.116420412_116420413del (hg19) ; chr12:g.115982607_115982608del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982614_115982615del , CM000674.2:g.115982614_115982615del	GRCh38
NC_000012.11:g.116420419_116420420del , CM000674.1:g.116420419_116420420del	GRCh37
NC_000012.10:g.114904802_114904803del	NCBI36
NG_023366.1:g.299579_299580del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4956-5_4956-4del MANE Select	ENSP00000281928.3:n.4956-5_4956-4del
ENST00000549786.2:c.4384-5_4384-4del
ENST00000648379.1:n.3324-5_3324-4del
ENST00000648737.1:n.4720-5_4720-4del
ENST00000648825.1:n.1696-5_1696-4del
ENST00000648916.1:n.2967-5_2967-4del
ENST00000649146.1:n.2194_2195del
ENST00000649607.1:c.3140-5_3140-4del
ENST00000649775.1:c.1453-13_1453-12del
ENST00000650226.1:c.4956-5_4956-4del	ENSP00000496981.1:n.4956-5_4956-4del
ENST00000281928.7:c.4956-5_4956-4del	ENSP00000281928.3:n.4956-5_4956-4del
ENST00000549786.1:c.320-5_320-4del
NM_015335.4:c.4956-5_4956-4del	NP_056150.1:n.4956-5_4956-4del
XM_011538080.1:c.4956-5_4956-4del	XP_011536382.1:n.4956-5_4956-4del
XM_011538081.1:c.4953-5_4953-4del	XP_011536383.1:n.4953-5_4953-4del
XM_011538082.1:c.4926-5_4926-4del	XP_011536384.1:n.4926-5_4926-4del
XM_011538080.2:c.4956-5_4956-4del	XP_011536382.1:n.4956-5_4956-4del
XM_011538081.2:c.4953-5_4953-4del	XP_011536383.1:n.4953-5_4953-4del
XM_011538082.2:c.4926-5_4926-4del	XP_011536384.1:n.4926-5_4926-4del
XM_017019090.1:c.4953-5_4953-4del	XP_016874579.1:n.4953-5_4953-4del
NM_015335.5:c.4956-5_4956-4del MANE Select	NP_056150.1:n.4956-5_4956-4del