Canonical Allele Identifier: CA2065372310

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982838_115982843delinsCCCTTT , CM000674.2:g.115982838_115982843delinsCCCTTT	GRCh38
NC_000012.11:g.116420643_116420648delinsCCCTTT , CM000674.1:g.116420643_116420648delinsCCCTTT	GRCh37
NC_000012.10:g.114905026_114905031delinsCCCTTT	NCBI36
NG_023366.1:g.299344_299349delinsAAAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4956-240_4956-235delinsAAAGGG MANE Select	ENSP00000281928.3:n.4956-240_4956-235delinsAAAGGG
ENST00000549786.2:c.4384-240_4384-235delinsAAAGGG
ENST00000648379.1:n.3324-240_3324-235delinsAAAGGG
ENST00000648737.1:n.4720-240_4720-235delinsAAAGGG
ENST00000648825.1:n.1696-240_1696-235delinsAAAGGG
ENST00000648916.1:n.2967-240_2967-235delinsAAAGGG
ENST00000649146.1:n.1959_1964delinsAAAGGG
ENST00000649607.1:c.3140-240_3140-235delinsAAAGGG
ENST00000649775.1:c.1453-248_1453-243delinsAAAGGG
ENST00000650226.1:c.4956-240_4956-235delinsAAAGGG	ENSP00000496981.1:n.4956-240_4956-235delinsAAAGGG
ENST00000281928.7:c.4956-240_4956-235delinsAAAGGG	ENSP00000281928.3:n.4956-240_4956-235delinsAAAGGG
ENST00000549786.1:c.320-240_320-235delinsAAAGGG
NM_015335.4:c.4956-240_4956-235delinsAAAGGG	NP_056150.1:n.4956-240_4956-235delinsAAAGGG
XM_011538080.1:c.4956-240_4956-235delinsAAAGGG	XP_011536382.1:n.4956-240_4956-235delinsAAAGGG
XM_011538081.1:c.4953-240_4953-235delinsAAAGGG	XP_011536383.1:n.4953-240_4953-235delinsAAAGGG
XM_011538082.1:c.4926-240_4926-235delinsAAAGGG	XP_011536384.1:n.4926-240_4926-235delinsAAAGGG
XM_011538080.2:c.4956-240_4956-235delinsAAAGGG	XP_011536382.1:n.4956-240_4956-235delinsAAAGGG
XM_011538081.2:c.4953-240_4953-235delinsAAAGGG	XP_011536383.1:n.4953-240_4953-235delinsAAAGGG
XM_011538082.2:c.4926-240_4926-235delinsAAAGGG	XP_011536384.1:n.4926-240_4926-235delinsAAAGGG
XM_017019090.1:c.4953-240_4953-235delinsAAAGGG	XP_016874579.1:n.4953-240_4953-235delinsAAAGGG
NM_015335.5:c.4956-240_4956-235delinsAAAGGG MANE Select	NP_056150.1:n.4956-240_4956-235delinsAAAGGG