Canonical Allele Identifier: CA2065397498

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997560_115997576delinsTATAGGCACGTGCCACC , CM000674.2:g.115997560_115997576delinsTATAGGCACGTGCCACC	GRCh38
NC_000012.11:g.116435365_116435381delinsTATAGGCACGTGCCACC , CM000674.1:g.116435365_116435381delinsTATAGGCACGTGCCACC	GRCh37
NC_000012.10:g.114919748_114919764delinsTATAGGCACGTGCCACC	NCBI36
NG_023366.1:g.284611_284627delinsGGTGGCACGTGCCTATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2570-346_2570-330delinsGGTGGCACGTGCCTATA MANE Select	ENSP00000281928.3:n.2570-346_2570-330delinsGGTGGCACGTGCCTATA
ENST00000548743.2:c.2540-346_2540-330delinsGGTGGCACGTGCCTATA	ENSP00000448553.2:n.2540-346_2540-330delinsGGTGGCACGTGCCTATA
ENST00000549786.2:c.1998-346_1998-330delinsGGTGGCACGTGCCTATA
ENST00000647927.1:n.2597_2613delinsGGTGGCACGTGCCTATA
ENST00000648173.1:n.1365-346_1365-330delinsGGTGGCACGTGCCTATA
ENST00000648379.1:n.938-346_938-330delinsGGTGGCACGTGCCTATA
ENST00000648737.1:n.2334-346_2334-330delinsGGTGGCACGTGCCTATA
ENST00000648916.1:n.581-346_581-330delinsGGTGGCACGTGCCTATA
ENST00000649607.1:c.757-349_757-333delinsGGTGGCACGTGCCTATA
ENST00000650226.1:c.2570-346_2570-330delinsGGTGGCACGTGCCTATA	ENSP00000496981.1:n.2570-346_2570-330delinsGGTGGCACGTGCCTATA
ENST00000281928.7:c.2570-346_2570-330delinsGGTGGCACGTGCCTATA	ENSP00000281928.3:n.2570-346_2570-330delinsGGTGGCACGTGCCTATA
NM_015335.4:c.2570-346_2570-330delinsGGTGGCACGTGCCTATA	NP_056150.1:n.2570-346_2570-330delinsGGTGGCACGTGCCTATA
XM_011538080.1:c.2570-346_2570-330delinsGGTGGCACGTGCCTATA	XP_011536382.1:n.2570-346_2570-330delinsGGTGGCACGTGCCTATA
XM_011538081.1:c.2570-349_2570-333delinsGGTGGCACGTGCCTATA	XP_011536383.1:n.2570-349_2570-333delinsGGTGGCACGTGCCTATA
XM_011538082.1:c.2540-346_2540-330delinsGGTGGCACGTGCCTATA	XP_011536384.1:n.2540-346_2540-330delinsGGTGGCACGTGCCTATA
XM_011538080.2:c.2570-346_2570-330delinsGGTGGCACGTGCCTATA	XP_011536382.1:n.2570-346_2570-330delinsGGTGGCACGTGCCTATA
XM_011538081.2:c.2570-349_2570-333delinsGGTGGCACGTGCCTATA	XP_011536383.1:n.2570-349_2570-333delinsGGTGGCACGTGCCTATA
XM_011538082.2:c.2540-346_2540-330delinsGGTGGCACGTGCCTATA	XP_011536384.1:n.2540-346_2540-330delinsGGTGGCACGTGCCTATA
XM_017019090.1:c.2570-349_2570-333delinsGGTGGCACGTGCCTATA	XP_016874579.1:n.2570-349_2570-333delinsGGTGGCACGTGCCTATA
NM_015335.5:c.2570-346_2570-330delinsGGTGGCACGTGCCTATA MANE Select	NP_056150.1:n.2570-346_2570-330delinsGGTGGCACGTGCCTATA