Canonical Allele Identifier: CA2065372430

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982889_115982893delinsTAGTA , CM000674.2:g.115982889_115982893delinsTAGTA	GRCh38
NC_000012.11:g.116420694_116420698delinsTAGTA , CM000674.1:g.116420694_116420698delinsTAGTA	GRCh37
NC_000012.10:g.114905077_114905081delinsTAGTA	NCBI36
NG_023366.1:g.299294_299298delinsTACTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4955+224_4955+228delinsTACTA MANE Select	ENSP00000281928.3:n.4955+224_4955+228delinsTACTA
ENST00000549786.2:c.4383+224_4383+228delinsTACTA
ENST00000648379.1:n.3323+224_3323+228delinsTACTA
ENST00000648737.1:n.4719+224_4719+228delinsTACTA
ENST00000648825.1:n.1695+224_1695+228delinsTACTA
ENST00000648916.1:n.2966+224_2966+228delinsTACTA
ENST00000649146.1:n.1909_1913delinsTACTA
ENST00000649607.1:c.3139+224_3139+228delinsTACTA
ENST00000649775.1:c.1452+224_1452+228delinsTACTA
ENST00000650226.1:c.4955+224_4955+228delinsTACTA	ENSP00000496981.1:n.4955+224_4955+228delinsTACTA
ENST00000281928.7:c.4955+224_4955+228delinsTACTA	ENSP00000281928.3:n.4955+224_4955+228delinsTACTA
ENST00000549786.1:c.319+224_319+228delinsTACTA
NM_015335.4:c.4955+224_4955+228delinsTACTA	NP_056150.1:n.4955+224_4955+228delinsTACTA
XM_011538080.1:c.4955+224_4955+228delinsTACTA	XP_011536382.1:n.4955+224_4955+228delinsTACTA
XM_011538081.1:c.4952+224_4952+228delinsTACTA	XP_011536383.1:n.4952+224_4952+228delinsTACTA
XM_011538082.1:c.4925+224_4925+228delinsTACTA	XP_011536384.1:n.4925+224_4925+228delinsTACTA
XM_011538080.2:c.4955+224_4955+228delinsTACTA	XP_011536382.1:n.4955+224_4955+228delinsTACTA
XM_011538081.2:c.4952+224_4952+228delinsTACTA	XP_011536383.1:n.4952+224_4952+228delinsTACTA
XM_011538082.2:c.4925+224_4925+228delinsTACTA	XP_011536384.1:n.4925+224_4925+228delinsTACTA
XM_017019090.1:c.4952+224_4952+228delinsTACTA	XP_016874579.1:n.4952+224_4952+228delinsTACTA
NM_015335.5:c.4955+224_4955+228delinsTACTA MANE Select	NP_056150.1:n.4955+224_4955+228delinsTACTA