Canonical Allele Identifier: CA2621144447

Gene: MED13L

Linked Data

• gnomAD v4: 12-115996720-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115996723_115996724del , CM000674.2:g.115996723_115996724del	GRCh38
NC_000012.11:g.116434528_116434529del , CM000674.1:g.116434528_116434529del	GRCh37
NC_000012.10:g.114918911_114918912del	NCBI36
NG_023366.1:g.285465_285466del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2791-41_2791-40del MANE Select	ENSP00000281928.3:n.2791-41_2791-40del
ENST00000548743.2:c.2761-41_2761-40del	ENSP00000448553.2:n.2761-41_2761-40del
ENST00000549786.2:c.2219-41_2219-40del
ENST00000647927.1:n.3164-41_3164-40del
ENST00000648173.1:n.1586-41_1586-40del
ENST00000648379.1:n.1159-41_1159-40del
ENST00000648737.1:n.2555-41_2555-40del
ENST00000648916.1:n.802-41_802-40del
ENST00000649607.1:c.975-41_975-40del
ENST00000650226.1:c.2791-41_2791-40del	ENSP00000496981.1:n.2791-41_2791-40del
ENST00000281928.7:c.2791-41_2791-40del	ENSP00000281928.3:n.2791-41_2791-40del
NM_015335.4:c.2791-41_2791-40del	NP_056150.1:n.2791-41_2791-40del
XM_011538080.1:c.2791-41_2791-40del	XP_011536382.1:n.2791-41_2791-40del
XM_011538081.1:c.2788-41_2788-40del	XP_011536383.1:n.2788-41_2788-40del
XM_011538082.1:c.2761-41_2761-40del	XP_011536384.1:n.2761-41_2761-40del
XM_011538080.2:c.2791-41_2791-40del	XP_011536382.1:n.2791-41_2791-40del
XM_011538081.2:c.2788-41_2788-40del	XP_011536383.1:n.2788-41_2788-40del
XM_011538082.2:c.2761-41_2761-40del	XP_011536384.1:n.2761-41_2761-40del
XM_017019090.1:c.2788-41_2788-40del	XP_016874579.1:n.2788-41_2788-40del
NM_015335.5:c.2791-41_2791-40del MANE Select	NP_056150.1:n.2791-41_2791-40del