Canonical Allele Identifier: CA2621144236

Gene: MED13L

Linked Data

• gnomAD v4: 12-115991822-AGGGGTTGCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991825_115991833del , CM000674.2:g.115991825_115991833del	GRCh38
NC_000012.11:g.116429630_116429638del , CM000674.1:g.116429630_116429638del	GRCh37
NC_000012.10:g.114914013_114914021del	NCBI36
NG_023366.1:g.290356_290364del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3123_3131del MANE Select	ENSP00000281928.3:p.Ala1042_Pro1044del
ENST00000548743.2:c.3093_3101del	ENSP00000448553.2:p.Ala1032_Pro1034del
ENST00000549786.2:c.2551_2559del
ENST00000648173.1:n.1918_1926del
ENST00000648379.1:n.1491_1499del
ENST00000648737.1:n.2887_2895del
ENST00000648916.1:n.1134_1142del
ENST00000649607.1:c.1307_1315del
ENST00000650226.1:c.3123_3131del	ENSP00000496981.1:p.Ala1042_Pro1044del
ENST00000281928.7:c.3123_3131del	ENSP00000281928.3:p.Ala1042_Pro1044del
NM_015335.4:c.3123_3131del	NP_056150.1:p.Ala1042_Pro1044del
XM_011538080.1:c.3123_3131del	XP_011536382.1:p.Ala1042_Pro1044del
XM_011538081.1:c.3120_3128del	XP_011536383.1:p.Ala1041_Pro1043del
XM_011538082.1:c.3093_3101del	XP_011536384.1:p.Ala1032_Pro1034del
XM_011538080.2:c.3123_3131del	XP_011536382.1:p.Ala1042_Pro1044del
XM_011538081.2:c.3120_3128del	XP_011536383.1:p.Ala1041_Pro1043del
XM_011538082.2:c.3093_3101del	XP_011536384.1:p.Ala1032_Pro1034del
XM_017019090.1:c.3120_3128del	XP_016874579.1:p.Ala1041_Pro1043del
NM_015335.5:c.3123_3131del MANE Select	NP_056150.1:p.Ala1042_Pro1044del