Canonical Allele Identifier: CA2065372464

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982922_115982925delinsCATA , CM000674.2:g.115982922_115982925delinsCATA	GRCh38
NC_000012.11:g.116420727_116420730delinsCATA , CM000674.1:g.116420727_116420730delinsCATA	GRCh37
NC_000012.10:g.114905110_114905113delinsCATA	NCBI36
NG_023366.1:g.299262_299265delinsTATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4955+192_4955+195delinsTATG MANE Select	ENSP00000281928.3:n.4955+192_4955+195delinsTATG
ENST00000549786.2:c.4383+192_4383+195delinsTATG
ENST00000648379.1:n.3323+192_3323+195delinsTATG
ENST00000648737.1:n.4719+192_4719+195delinsTATG
ENST00000648825.1:n.1695+192_1695+195delinsTATG
ENST00000648916.1:n.2966+192_2966+195delinsTATG
ENST00000649146.1:n.1877_1880delinsTATG
ENST00000649607.1:c.3139+192_3139+195delinsTATG
ENST00000649775.1:c.1452+192_1452+195delinsTATG
ENST00000650226.1:c.4955+192_4955+195delinsTATG	ENSP00000496981.1:n.4955+192_4955+195delinsTATG
ENST00000281928.7:c.4955+192_4955+195delinsTATG	ENSP00000281928.3:n.4955+192_4955+195delinsTATG
ENST00000549786.1:c.319+192_319+195delinsTATG
NM_015335.4:c.4955+192_4955+195delinsTATG	NP_056150.1:n.4955+192_4955+195delinsTATG
XM_011538080.1:c.4955+192_4955+195delinsTATG	XP_011536382.1:n.4955+192_4955+195delinsTATG
XM_011538081.1:c.4952+192_4952+195delinsTATG	XP_011536383.1:n.4952+192_4952+195delinsTATG
XM_011538082.1:c.4925+192_4925+195delinsTATG	XP_011536384.1:n.4925+192_4925+195delinsTATG
XM_011538080.2:c.4955+192_4955+195delinsTATG	XP_011536382.1:n.4955+192_4955+195delinsTATG
XM_011538081.2:c.4952+192_4952+195delinsTATG	XP_011536383.1:n.4952+192_4952+195delinsTATG
XM_011538082.2:c.4925+192_4925+195delinsTATG	XP_011536384.1:n.4925+192_4925+195delinsTATG
XM_017019090.1:c.4952+192_4952+195delinsTATG	XP_016874579.1:n.4952+192_4952+195delinsTATG
NM_015335.5:c.4955+192_4955+195delinsTATG MANE Select	NP_056150.1:n.4955+192_4955+195delinsTATG