Canonical Allele Identifier: CA2621144461

Gene: MED13L

Linked Data

• gnomAD v4: 12-115996742-G-GATA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115996742_115996743insATA , CM000674.2:g.115996742_115996743insATA	GRCh38
NC_000012.11:g.116434547_116434548insATA , CM000674.1:g.116434547_116434548insATA	GRCh37
NC_000012.10:g.114918930_114918931insATA	NCBI36
NG_023366.1:g.285444_285445insTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2791-62_2791-61insTAT MANE Select	ENSP00000281928.3:n.2791-62_2791-61insTAT
ENST00000548743.2:c.2761-62_2761-61insTAT	ENSP00000448553.2:n.2761-62_2761-61insTAT
ENST00000549786.2:c.2219-62_2219-61insTAT
ENST00000647927.1:n.3164-62_3164-61insTAT
ENST00000648173.1:n.1586-62_1586-61insTAT
ENST00000648379.1:n.1159-62_1159-61insTAT
ENST00000648737.1:n.2555-62_2555-61insTAT
ENST00000648916.1:n.802-62_802-61insTAT
ENST00000649607.1:c.975-62_975-61insTAT
ENST00000650226.1:c.2791-62_2791-61insTAT	ENSP00000496981.1:n.2791-62_2791-61insTAT
ENST00000281928.7:c.2791-62_2791-61insTAT	ENSP00000281928.3:n.2791-62_2791-61insTAT
NM_015335.4:c.2791-62_2791-61insTAT	NP_056150.1:n.2791-62_2791-61insTAT
XM_011538080.1:c.2791-62_2791-61insTAT	XP_011536382.1:n.2791-62_2791-61insTAT
XM_011538081.1:c.2788-62_2788-61insTAT	XP_011536383.1:n.2788-62_2788-61insTAT
XM_011538082.1:c.2761-62_2761-61insTAT	XP_011536384.1:n.2761-62_2761-61insTAT
XM_011538080.2:c.2791-62_2791-61insTAT	XP_011536382.1:n.2791-62_2791-61insTAT
XM_011538081.2:c.2788-62_2788-61insTAT	XP_011536383.1:n.2788-62_2788-61insTAT
XM_011538082.2:c.2761-62_2761-61insTAT	XP_011536384.1:n.2761-62_2761-61insTAT
XM_017019090.1:c.2788-62_2788-61insTAT	XP_016874579.1:n.2788-62_2788-61insTAT
NM_015335.5:c.2791-62_2791-61insTAT MANE Select	NP_056150.1:n.2791-62_2791-61insTAT