Canonical Allele Identifier: CA244154942

Gene: MED13L

Linked Data

• dbSNP Id: rs200498590
• gnomAD v2: 12-116435225-C-CTTGTT
• gnomAD v3: 12-115997420-C-CTTGTT
• gnomAD v4: 12-115997420-C-CTTGTT
• MyVariant Identifiers: chr12:g.116435230_116435231insTTGTT (hg19) ; chr12:g.116435225_116435226insTTGTT (hg19) ; chr12:g.115997425_115997426insTTGTT (hg38) ; chr12:g.115997420_115997421insTTGTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997432_115997436dup , CM000674.2:g.115997432_115997436dup	GRCh38
NC_000012.11:g.116435237_116435241dup , CM000674.1:g.116435237_116435241dup	GRCh37
NC_000012.10:g.114919620_114919624dup	NCBI36
NG_023366.1:g.284762_284766dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2570-195_2570-191dup MANE Select	ENSP00000281928.3:n.2570-195_2570-191dup
ENST00000548743.2:c.2540-195_2540-191dup	ENSP00000448553.2:n.2540-195_2540-191dup
ENST00000549786.2:c.1998-195_1998-191dup
ENST00000647927.1:n.2748_2752dup
ENST00000648173.1:n.1365-195_1365-191dup
ENST00000648379.1:n.938-195_938-191dup
ENST00000648737.1:n.2334-195_2334-191dup
ENST00000648916.1:n.581-195_581-191dup
ENST00000649607.1:c.757-198_757-194dup
ENST00000650226.1:c.2570-195_2570-191dup	ENSP00000496981.1:n.2570-195_2570-191dup
ENST00000281928.7:c.2570-195_2570-191dup	ENSP00000281928.3:n.2570-195_2570-191dup
NM_015335.4:c.2570-195_2570-191dup	NP_056150.1:n.2570-195_2570-191dup
XM_011538080.1:c.2570-195_2570-191dup	XP_011536382.1:n.2570-195_2570-191dup
XM_011538081.1:c.2570-198_2570-194dup	XP_011536383.1:n.2570-198_2570-194dup
XM_011538082.1:c.2540-195_2540-191dup	XP_011536384.1:n.2540-195_2540-191dup
XM_011538080.2:c.2570-195_2570-191dup	XP_011536382.1:n.2570-195_2570-191dup
XM_011538081.2:c.2570-198_2570-194dup	XP_011536383.1:n.2570-198_2570-194dup
XM_011538082.2:c.2540-195_2540-191dup	XP_011536384.1:n.2540-195_2540-191dup
XM_017019090.1:c.2570-198_2570-194dup	XP_016874579.1:n.2570-198_2570-194dup
NM_015335.5:c.2570-195_2570-191dup MANE Select	NP_056150.1:n.2570-195_2570-191dup