Canonical Allele Identifier: CA2065381475

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116012803_116012806delinsCAAG , CM000674.2:g.116012803_116012806delinsCAAG	GRCh38
NC_000012.11:g.116450608_116450611delinsCAAG , CM000674.1:g.116450608_116450611delinsCAAG	GRCh37
NC_000012.10:g.114934991_114934994delinsCAAG	NCBI36
NG_023366.1:g.269381_269384delinsCTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.1271_1274delinsCTTG MANE Select	ENSP00000281928.3:p.Ser424=
ENST00000548743.2:c.1241_1244delinsCTTG	ENSP00000448553.2:p.Ser414=
ENST00000549786.2:c.699_702delinsCTTG
ENST00000647567.1:c.1178_1181delinsCTTG	ENSP00000497136.1:p.Ser393=
ENST00000648737.1:n.1035_1038delinsCTTG
ENST00000650226.1:c.1271_1274delinsCTTG	ENSP00000496981.1:p.Ser424=
ENST00000281928.7:c.1271_1274delinsCTTG	ENSP00000281928.3:p.Ser424=
NM_015335.4:c.1271_1274delinsCTTG	NP_056150.1:p.Ser424=
XM_011538080.1:c.1271_1274delinsCTTG	XP_011536382.1:p.Ser424=
XM_011538081.1:c.1271_1274delinsCTTG	XP_011536383.1:p.Ser424=
XM_011538082.1:c.1241_1244delinsCTTG	XP_011536384.1:p.Ser414=
XM_011538080.2:c.1271_1274delinsCTTG	XP_011536382.1:p.Ser424=
XM_011538081.2:c.1271_1274delinsCTTG	XP_011536383.1:p.Ser424=
XM_011538082.2:c.1241_1244delinsCTTG	XP_011536384.1:p.Ser414=
XM_017019090.1:c.1271_1274delinsCTTG	XP_016874579.1:p.Ser424=
NM_015335.5:c.1271_1274delinsCTTG MANE Select	NP_056150.1:p.Ser424=