Canonical Allele Identifier: CA2065386440

Gene: MED13L

Linked Data

• ClinVar Variation Id: 975439
• ClinVar RCV Id: RCV001252064
• dbSNP Id: rs1878068615

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991671_115991672del , CM000674.2:g.115991671_115991672del	GRCh38
NC_000012.11:g.116429476_116429477del , CM000674.1:g.116429476_116429477del	GRCh37
NC_000012.10:g.114913859_114913860del	NCBI36
NG_023366.1:g.290517_290518del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3284_3285del MANE Select	ENSP00000281928.3:p.Val1095GlyfsTer29
ENST00000549786.2:c.2712_2713del
ENST00000648379.1:n.1652_1653del
ENST00000648737.1:n.3048_3049del
ENST00000648825.1:n.24_25del
ENST00000648916.1:n.1295_1296del
ENST00000649607.1:c.1468_1469del
ENST00000650226.1:c.3284_3285del	ENSP00000496981.1:p.Val1095GlyfsTer29
ENST00000281928.7:c.3284_3285del	ENSP00000281928.3:p.Val1095GlyfsTer29
NM_015335.4:c.3284_3285del	NP_056150.1:p.Val1095GlyfsTer29
XM_011538080.1:c.3284_3285del	XP_011536382.1:p.Val1095GlyfsTer29
XM_011538081.1:c.3281_3282del	XP_011536383.1:p.Val1094GlyfsTer29
XM_011538082.1:c.3254_3255del	XP_011536384.1:p.Val1085GlyfsTer29
XM_011538080.2:c.3284_3285del	XP_011536382.1:p.Val1095GlyfsTer29
XM_011538081.2:c.3281_3282del	XP_011536383.1:p.Val1094GlyfsTer29
XM_011538082.2:c.3254_3255del	XP_011536384.1:p.Val1085GlyfsTer29
XM_017019090.1:c.3281_3282del	XP_016874579.1:p.Val1094GlyfsTer29
NM_015335.5:c.3284_3285del MANE Select	NP_056150.1:p.Val1095GlyfsTer29