Canonical Allele Identifier: CA2621144505

Gene: MED13L

Linked Data

• gnomAD v4: 12-115996823-GCAGAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115996824_115996828del , CM000674.2:g.115996824_115996828del	GRCh38
NC_000012.11:g.116434629_116434633del , CM000674.1:g.116434629_116434633del	GRCh37
NC_000012.10:g.114919012_114919016del	NCBI36
NG_023366.1:g.285359_285363del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2791-147_2791-143del MANE Select	ENSP00000281928.3:n.2791-147_2791-143del
ENST00000548743.2:c.2761-147_2761-143del	ENSP00000448553.2:n.2761-147_2761-143del
ENST00000549786.2:c.2219-147_2219-143del
ENST00000647927.1:n.3164-147_3164-143del
ENST00000648173.1:n.1586-147_1586-143del
ENST00000648379.1:n.1159-147_1159-143del
ENST00000648737.1:n.2555-147_2555-143del
ENST00000648916.1:n.802-147_802-143del
ENST00000649607.1:c.975-147_975-143del
ENST00000650226.1:c.2791-147_2791-143del	ENSP00000496981.1:n.2791-147_2791-143del
ENST00000281928.7:c.2791-147_2791-143del	ENSP00000281928.3:n.2791-147_2791-143del
NM_015335.4:c.2791-147_2791-143del	NP_056150.1:n.2791-147_2791-143del
XM_011538080.1:c.2791-147_2791-143del	XP_011536382.1:n.2791-147_2791-143del
XM_011538081.1:c.2788-147_2788-143del	XP_011536383.1:n.2788-147_2788-143del
XM_011538082.1:c.2761-147_2761-143del	XP_011536384.1:n.2761-147_2761-143del
XM_011538080.2:c.2791-147_2791-143del	XP_011536382.1:n.2791-147_2791-143del
XM_011538081.2:c.2788-147_2788-143del	XP_011536383.1:n.2788-147_2788-143del
XM_011538082.2:c.2761-147_2761-143del	XP_011536384.1:n.2761-147_2761-143del
XM_017019090.1:c.2788-147_2788-143del	XP_016874579.1:n.2788-147_2788-143del
NM_015335.5:c.2791-147_2791-143del MANE Select	NP_056150.1:n.2791-147_2791-143del