Canonical Allele Identifier: CA2621144438

Gene: MED13L

Linked Data

• gnomAD v4: 12-115996699-G-GGTCAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115996702_115996707dup , CM000674.2:g.115996702_115996707dup	GRCh38
NC_000012.11:g.116434507_116434512dup , CM000674.1:g.116434507_116434512dup	GRCh37
NC_000012.10:g.114918890_114918895dup	NCBI36
NG_023366.1:g.285482_285487dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2791-24_2791-19dup MANE Select	ENSP00000281928.3:n.2791-24_2791-19dup
ENST00000548743.2:c.2761-24_2761-19dup	ENSP00000448553.2:n.2761-24_2761-19dup
ENST00000549786.2:c.2219-24_2219-19dup
ENST00000647927.1:n.3164-24_3164-19dup
ENST00000648173.1:n.1586-24_1586-19dup
ENST00000648379.1:n.1159-24_1159-19dup
ENST00000648737.1:n.2555-24_2555-19dup
ENST00000648916.1:n.802-24_802-19dup
ENST00000649607.1:c.975-24_975-19dup
ENST00000650226.1:c.2791-24_2791-19dup	ENSP00000496981.1:n.2791-24_2791-19dup
ENST00000281928.7:c.2791-24_2791-19dup	ENSP00000281928.3:n.2791-24_2791-19dup
NM_015335.4:c.2791-24_2791-19dup	NP_056150.1:n.2791-24_2791-19dup
XM_011538080.1:c.2791-24_2791-19dup	XP_011536382.1:n.2791-24_2791-19dup
XM_011538081.1:c.2788-24_2788-19dup	XP_011536383.1:n.2788-24_2788-19dup
XM_011538082.1:c.2761-24_2761-19dup	XP_011536384.1:n.2761-24_2761-19dup
XM_011538080.2:c.2791-24_2791-19dup	XP_011536382.1:n.2791-24_2791-19dup
XM_011538081.2:c.2788-24_2788-19dup	XP_011536383.1:n.2788-24_2788-19dup
XM_011538082.2:c.2761-24_2761-19dup	XP_011536384.1:n.2761-24_2761-19dup
XM_017019090.1:c.2788-24_2788-19dup	XP_016874579.1:n.2788-24_2788-19dup
NM_015335.5:c.2791-24_2791-19dup MANE Select	NP_056150.1:n.2791-24_2791-19dup