Canonical Allele Identifier: CA684019460

Gene: MED13L

Linked Data

• dbSNP Id: rs1169269347
• MyVariant Identifiers: chr12:g.116408392_116408393insA (hg19) ; chr12:g.115970587_115970588insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970588dup , CM000674.2:g.115970588dup	GRCh38
NC_000012.11:g.116408393dup , CM000674.1:g.116408393dup	GRCh37
NC_000012.10:g.114892776dup	NCBI36
NG_023366.1:g.311599dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.6067+6dup MANE Select	ENSP00000281928.3:n.6067+6dup
ENST00000548784.2:n.2281+6dup
ENST00000648379.1:n.4435+6dup
ENST00000648737.1:n.5831+6dup
ENST00000648825.1:n.4252+6dup
ENST00000648916.1:n.4078+6dup
ENST00000649607.1:c.4251+6dup
ENST00000649775.1:c.2556+6dup
ENST00000650226.1:c.6103+6dup	ENSP00000496981.1:n.6103+6dup
ENST00000281928.7:c.6067+6dup	ENSP00000281928.3:n.6067+6dup
NM_015335.4:c.6067+6dup	NP_056150.1:n.6067+6dup
XM_011538080.1:c.6103+6dup	XP_011536382.1:n.6103+6dup
XM_011538081.1:c.6100+6dup	XP_011536383.1:n.6100+6dup
XM_011538082.1:c.6073+6dup	XP_011536384.1:n.6073+6dup
XM_011538080.2:c.6103+6dup	XP_011536382.1:n.6103+6dup
XM_011538081.2:c.6100+6dup	XP_011536383.1:n.6100+6dup
XM_011538082.2:c.6073+6dup	XP_011536384.1:n.6073+6dup
XM_017019090.1:c.6064+6dup	XP_016874579.1:n.6064+6dup
NM_015335.5:c.6067+6dup MANE Select	NP_056150.1:n.6067+6dup