Canonical Allele Identifier: CA482137216

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429452_116429453insA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991647_115991648insA , CM000674.2:g.115991647_115991648insA	GRCh38
NC_000012.11:g.116429452_116429453insA , CM000674.1:g.116429452_116429453insA	GRCh37
NC_000012.10:g.114913835_114913836insA	NCBI36
NG_023366.1:g.290539_290540insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3306_3307insT MANE Select	ENSP00000281928.3:p.Ile1103TyrfsTer22
ENST00000549786.2:c.2734_2735insT
ENST00000648379.1:n.1674_1675insT
ENST00000648737.1:n.3070_3071insT
ENST00000648825.1:n.46_47insT
ENST00000648916.1:n.1317_1318insT
ENST00000649607.1:c.1490_1491insT
ENST00000650226.1:c.3306_3307insT	ENSP00000496981.1:p.Ile1103TyrfsTer22
ENST00000281928.7:c.3306_3307insT	ENSP00000281928.3:p.Ile1103TyrfsTer22
NM_015335.4:c.3306_3307insT	NP_056150.1:p.Ile1103TyrfsTer22
XM_011538080.1:c.3306_3307insT	XP_011536382.1:p.Ile1103TyrfsTer22
XM_011538081.1:c.3303_3304insT	XP_011536383.1:p.Ile1102TyrfsTer22
XM_011538082.1:c.3276_3277insT	XP_011536384.1:p.Ile1093TyrfsTer22
XM_011538080.2:c.3306_3307insT	XP_011536382.1:p.Ile1103TyrfsTer22
XM_011538081.2:c.3303_3304insT	XP_011536383.1:p.Ile1102TyrfsTer22
XM_011538082.2:c.3276_3277insT	XP_011536384.1:p.Ile1093TyrfsTer22
XM_017019090.1:c.3303_3304insT	XP_016874579.1:p.Ile1102TyrfsTer22
NM_015335.5:c.3306_3307insT MANE Select	NP_056150.1:p.Ile1103TyrfsTer22