Canonical Allele Identifier: CA2065397501

Gene: MED13L

Linked Data

• dbSNP Id: rs1878484484

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997563_115997578del , CM000674.2:g.115997563_115997578del	GRCh38
NC_000012.11:g.116435368_116435383del , CM000674.1:g.116435368_116435383del	GRCh37
NC_000012.10:g.114919751_114919766del	NCBI36
NG_023366.1:g.284611_284626del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2570-346_2570-331del MANE Select	ENSP00000281928.3:n.2570-346_2570-331del
ENST00000548743.2:c.2540-346_2540-331del	ENSP00000448553.2:n.2540-346_2540-331del
ENST00000549786.2:c.1998-346_1998-331del
ENST00000647927.1:n.2597_2612del
ENST00000648173.1:n.1365-346_1365-331del
ENST00000648379.1:n.938-346_938-331del
ENST00000648737.1:n.2334-346_2334-331del
ENST00000648916.1:n.581-346_581-331del
ENST00000649607.1:c.757-349_757-334del
ENST00000650226.1:c.2570-346_2570-331del	ENSP00000496981.1:n.2570-346_2570-331del
ENST00000281928.7:c.2570-346_2570-331del	ENSP00000281928.3:n.2570-346_2570-331del
NM_015335.4:c.2570-346_2570-331del	NP_056150.1:n.2570-346_2570-331del
XM_011538080.1:c.2570-346_2570-331del	XP_011536382.1:n.2570-346_2570-331del
XM_011538081.1:c.2570-349_2570-334del	XP_011536383.1:n.2570-349_2570-334del
XM_011538082.1:c.2540-346_2540-331del	XP_011536384.1:n.2540-346_2540-331del
XM_011538080.2:c.2570-346_2570-331del	XP_011536382.1:n.2570-346_2570-331del
XM_011538081.2:c.2570-349_2570-334del	XP_011536383.1:n.2570-349_2570-334del
XM_011538082.2:c.2540-346_2540-331del	XP_011536384.1:n.2540-346_2540-331del
XM_017019090.1:c.2570-349_2570-334del	XP_016874579.1:n.2570-349_2570-334del
NM_015335.5:c.2570-346_2570-331del MANE Select	NP_056150.1:n.2570-346_2570-331del