Canonical Allele Identifier: CA607651448

Gene: MED13L

Linked Data

• dbSNP Id: rs1315184986
• gnomAD v2: 12-116420414-G-GA
• gnomAD v3: 12-115982609-G-GA
• gnomAD v4: 12-115982609-G-GA
• MyVariant Identifiers: chr12:g.116420414_116420415insA (hg19) ; chr12:g.115982609_115982610insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982610dup , CM000674.2:g.115982610dup	GRCh38
NC_000012.11:g.116420415dup , CM000674.1:g.116420415dup	GRCh37
NC_000012.10:g.114904798dup	NCBI36
NG_023366.1:g.299577dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.4956-7dup MANE Select	ENSP00000281928.3:n.4956-7dup
ENST00000549786.2:c.4384-7dup
ENST00000648379.1:n.3324-7dup
ENST00000648737.1:n.4720-7dup
ENST00000648825.1:n.1696-7dup
ENST00000648916.1:n.2967-7dup
ENST00000649146.1:n.2192dup
ENST00000649607.1:c.3140-7dup
ENST00000649775.1:c.1453-15dup
ENST00000650226.1:c.4956-7dup	ENSP00000496981.1:n.4956-7dup
ENST00000281928.7:c.4956-7dup	ENSP00000281928.3:n.4956-7dup
ENST00000549786.1:c.320-7dup
NM_015335.4:c.4956-7dup	NP_056150.1:n.4956-7dup
XM_011538080.1:c.4956-7dup	XP_011536382.1:n.4956-7dup
XM_011538081.1:c.4953-7dup	XP_011536383.1:n.4953-7dup
XM_011538082.1:c.4926-7dup	XP_011536384.1:n.4926-7dup
XM_011538080.2:c.4956-7dup	XP_011536382.1:n.4956-7dup
XM_011538081.2:c.4953-7dup	XP_011536383.1:n.4953-7dup
XM_011538082.2:c.4926-7dup	XP_011536384.1:n.4926-7dup
XM_017019090.1:c.4953-7dup	XP_016874579.1:n.4953-7dup
NM_015335.5:c.4956-7dup MANE Select	NP_056150.1:n.4956-7dup