Canonical Allele Identifier: CA2621143815

Gene: MED13L

Linked Data

• gnomAD v4: 12-115975426-C-CAGAGTTA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975426_115975427insAGAGTTA , CM000674.2:g.115975426_115975427insAGAGTTA	GRCh38
NC_000012.11:g.116413231_116413232insAGAGTTA , CM000674.1:g.116413231_116413232insAGAGTTA	GRCh37
NC_000012.10:g.114897614_114897615insAGAGTTA	NCBI36
NG_023366.1:g.306760_306761insTAACTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5588+88_5588+89insTAACTCT MANE Select	ENSP00000281928.3:n.5588+88_5588+89insTAACTCT
ENST00000548694.2:n.465_466insTAACTCT
ENST00000648379.1:n.3956+88_3956+89insTAACTCT
ENST00000648737.1:n.5352+88_5352+89insTAACTCT
ENST00000648825.1:n.3773+88_3773+89insTAACTCT
ENST00000648916.1:n.3599+88_3599+89insTAACTCT
ENST00000649607.1:c.3772+88_3772+89insTAACTCT
ENST00000649775.1:c.2077+88_2077+89insTAACTCT
ENST00000650226.1:c.5589-78_5589-77insTAACTCT	ENSP00000496981.1:n.5589-78_5589-77insTAACTCT
ENST00000281928.7:c.5588+88_5588+89insTAACTCT	ENSP00000281928.3:n.5588+88_5588+89insTAACTCT
ENST00000548694.1:n.465_466insTAACTCT
ENST00000552447.1:c.166-78_166-77insTAACTCT
NM_015335.4:c.5588+88_5588+89insTAACTCT	NP_056150.1:n.5588+88_5588+89insTAACTCT
XM_011538080.1:c.5589-78_5589-77insTAACTCT	XP_011536382.1:n.5589-78_5589-77insTAACTCT
XM_011538081.1:c.5586-78_5586-77insTAACTCT	XP_011536383.1:n.5586-78_5586-77insTAACTCT
XM_011538082.1:c.5559-78_5559-77insTAACTCT	XP_011536384.1:n.5559-78_5559-77insTAACTCT
XM_011538080.2:c.5589-78_5589-77insTAACTCT	XP_011536382.1:n.5589-78_5589-77insTAACTCT
XM_011538081.2:c.5586-78_5586-77insTAACTCT	XP_011536383.1:n.5586-78_5586-77insTAACTCT
XM_011538082.2:c.5559-78_5559-77insTAACTCT	XP_011536384.1:n.5559-78_5559-77insTAACTCT
XM_017019090.1:c.5585+88_5585+89insTAACTCT	XP_016874579.1:n.5585+88_5585+89insTAACTCT
NM_015335.5:c.5588+88_5588+89insTAACTCT MANE Select	NP_056150.1:n.5588+88_5588+89insTAACTCT