Canonical Allele Identifier: CA2065365266

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116003048_116003055delinsGGTCTTCT , CM000674.2:g.116003048_116003055delinsGGTCTTCT	GRCh38
NC_000012.11:g.116440853_116440860delinsGGTCTTCT , CM000674.1:g.116440853_116440860delinsGGTCTTCT	GRCh37
NC_000012.10:g.114925236_114925243delinsGGTCTTCT	NCBI36
NG_023366.1:g.279132_279139delinsAGAAGACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2517_2524delinsAGAAGACC MANE Select	ENSP00000281928.3:p.Thr839=
ENST00000548743.2:c.2487_2494delinsAGAAGACC	ENSP00000448553.2:p.Thr829=
ENST00000549786.2:c.1945_1952delinsAGAAGACC
ENST00000648173.1:n.1312_1319delinsAGAAGACC
ENST00000648379.1:n.885_892delinsAGAAGACC
ENST00000648737.1:n.2281_2288delinsAGAAGACC
ENST00000648916.1:n.528_535delinsAGAAGACC
ENST00000649607.1:c.704_711delinsAGAAGACC
ENST00000650226.1:c.2517_2524delinsAGAAGACC	ENSP00000496981.1:p.Thr839=
ENST00000281928.7:c.2517_2524delinsAGAAGACC	ENSP00000281928.3:p.Thr839=
NM_015335.4:c.2517_2524delinsAGAAGACC	NP_056150.1:p.Thr839=
XM_011538080.1:c.2517_2524delinsAGAAGACC	XP_011536382.1:p.Thr839=
XM_011538081.1:c.2517_2524delinsAGAAGACC	XP_011536383.1:p.Thr839=
XM_011538082.1:c.2487_2494delinsAGAAGACC	XP_011536384.1:p.Thr829=
XM_011538080.2:c.2517_2524delinsAGAAGACC	XP_011536382.1:p.Thr839=
XM_011538081.2:c.2517_2524delinsAGAAGACC	XP_011536383.1:p.Thr839=
XM_011538082.2:c.2487_2494delinsAGAAGACC	XP_011536384.1:p.Thr829=
XM_017019090.1:c.2517_2524delinsAGAAGACC	XP_016874579.1:p.Thr839=
NM_015335.5:c.2517_2524delinsAGAAGACC MANE Select	NP_056150.1:p.Thr839=