Canonical Allele Identifier: CA2621144614

Gene: MED13L

Linked Data

• gnomAD v4: 12-115997300-GCGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997301_115997303del , CM000674.2:g.115997301_115997303del	GRCh38
NC_000012.11:g.116435106_116435108del , CM000674.1:g.116435106_116435108del	GRCh37
NC_000012.10:g.114919489_114919491del	NCBI36
NG_023366.1:g.284884_284886del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2570-73_2570-71del MANE Select	ENSP00000281928.3:n.2570-73_2570-71del
ENST00000548743.2:c.2540-73_2540-71del	ENSP00000448553.2:n.2540-73_2540-71del
ENST00000549786.2:c.1998-73_1998-71del
ENST00000647927.1:n.2870_2872del
ENST00000648173.1:n.1365-73_1365-71del
ENST00000648379.1:n.938-73_938-71del
ENST00000648737.1:n.2334-73_2334-71del
ENST00000648916.1:n.581-73_581-71del
ENST00000649607.1:c.757-76_757-74del
ENST00000650226.1:c.2570-73_2570-71del	ENSP00000496981.1:n.2570-73_2570-71del
ENST00000281928.7:c.2570-73_2570-71del	ENSP00000281928.3:n.2570-73_2570-71del
NM_015335.4:c.2570-73_2570-71del	NP_056150.1:n.2570-73_2570-71del
XM_011538080.1:c.2570-73_2570-71del	XP_011536382.1:n.2570-73_2570-71del
XM_011538081.1:c.2570-76_2570-74del	XP_011536383.1:n.2570-76_2570-74del
XM_011538082.1:c.2540-73_2540-71del	XP_011536384.1:n.2540-73_2540-71del
XM_011538080.2:c.2570-73_2570-71del	XP_011536382.1:n.2570-73_2570-71del
XM_011538081.2:c.2570-76_2570-74del	XP_011536383.1:n.2570-76_2570-74del
XM_011538082.2:c.2540-73_2540-71del	XP_011536384.1:n.2540-73_2540-71del
XM_017019090.1:c.2570-76_2570-74del	XP_016874579.1:n.2570-76_2570-74del
NM_015335.5:c.2570-73_2570-71del MANE Select	NP_056150.1:n.2570-73_2570-71del