Canonical Allele Identifier: CA645369591

Gene: MED13L

Linked Data

• ClinVar Variation Id: 429444
• ClinVar RCV Id: RCV000493733
• dbSNP Id: rs1131691386
• MyVariant Identifiers: chr12:g.116406897dup (hg19) ; chr12:g.116406896_116406897insT (hg19) ; chr12:g.115969092dup (hg38) ; chr12:g.115969091_115969092insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115969092dup , CM000674.2:g.115969092dup	GRCh38
NC_000012.11:g.116406897dup , CM000674.1:g.116406897dup	GRCh37
NC_000012.10:g.114891280dup	NCBI36
NG_023366.1:g.313095dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.6073dup MANE Select	ENSP00000281928.3:p.Met2025AsnfsTer4
ENST00000548784.2:n.2287dup
ENST00000648379.1:n.4441dup
ENST00000648737.1:n.5837dup
ENST00000648825.1:n.4258dup
ENST00000648916.1:n.4084dup
ENST00000649607.1:c.4257dup
ENST00000649775.1:c.2556+1502dup
ENST00000650226.1:c.6109dup	ENSP00000496981.1:p.Met2037AsnfsTer4
ENST00000281928.7:c.6073dup	ENSP00000281928.3:p.Met2025AsnfsTer4
NM_015335.4:c.6073dup	NP_056150.1:p.Met2025AsnfsTer4
XM_011538080.1:c.6109dup	XP_011536382.1:p.Met2037AsnfsTer4
XM_011538081.1:c.6106dup	XP_011536383.1:p.Met2036AsnfsTer4
XM_011538082.1:c.6079dup	XP_011536384.1:p.Met2027AsnfsTer4
XM_011538080.2:c.6109dup	XP_011536382.1:p.Met2037AsnfsTer4
XM_011538081.2:c.6106dup	XP_011536383.1:p.Met2036AsnfsTer4
XM_011538082.2:c.6079dup	XP_011536384.1:p.Met2027AsnfsTer4
XM_017019090.1:c.6070dup	XP_016874579.1:p.Met2024AsnfsTer4
NM_015335.5:c.6073dup MANE Select	NP_056150.1:p.Met2025AsnfsTer4