Canonical Allele Identifier: CA1411085052

Gene: MED12L

Linked Data

• dbSNP Id: rs1171234416

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.151387523_151387524del , CM000665.2:g.151387523_151387524del	GRCh38
NC_000003.11:g.151105311_151105312del , CM000665.1:g.151105311_151105312del	GRCh37
NC_000003.10:g.152588001_152588002del	NCBI36
NG_016019.1:g.2238_2239del , LRG_569:g.2238_2239del
NG_021244.1:g.305636_305637del

Transcript Alleles

HGVS	Amino-acid change
ENST00000687756.1:c.5089-287_5089-286del MANE Select	ENSP00000508695.1:n.5089-287_5089-286del
ENST00000273432.8:c.4564-287_4564-286del	ENSP00000273432.4:n.4564-287_4564-286del
ENST00000474524.5:c.4984-287_4984-286del	ENSP00000417235.1:n.4984-287_4984-286del
NM_053002.5:c.4984-287_4984-286del	NP_443728.3:n.4984-287_4984-286del
XM_006713487.2:c.5089-287_5089-286del	XP_006713550.1:n.5089-287_5089-286del
XM_011512386.1:c.5089-287_5089-286del	XP_011510688.1:n.5089-287_5089-286del
XM_011512387.1:c.5086-287_5086-286del	XP_011510689.1:n.5086-287_5086-286del
XM_011512388.1:c.5089-287_5089-286del	XP_011510690.1:n.5089-287_5089-286del
XM_011512389.1:c.4984-287_4984-286del	XP_011510691.1:n.4984-287_4984-286del
XM_011512390.1:c.4984-287_4984-286del	XP_011510692.1:n.4984-287_4984-286del
XM_011512391.1:c.4819-287_4819-286del	XP_011510693.1:n.4819-287_4819-286del
XM_011512392.1:c.4633-287_4633-286del	XP_011510694.1:n.4633-287_4633-286del
XM_011512393.1:c.5089-287_5089-286del	XP_011510695.1:n.5089-287_5089-286del
XM_011512394.1:c.5089-287_5089-286del	XP_011510696.1:n.5089-287_5089-286del
XM_011512395.1:c.5089-287_5089-286del	XP_011510697.1:n.5089-287_5089-286del
XM_011512396.1:c.3514-287_3514-286del	XP_011510698.1:n.3514-287_3514-286del
XM_011512397.1:c.2956-287_2956-286del	XP_011510699.1:n.2956-287_2956-286del
XM_011512398.1:c.2884-287_2884-286del	XP_011510700.1:n.2884-287_2884-286del
XM_011512400.1:c.1906-287_1906-286del	XP_011510702.1:n.1906-287_1906-286del
XM_006713487.3:c.5089-287_5089-286del	XP_006713550.1:n.5089-287_5089-286del
XM_011512390.2:c.4984-287_4984-286del	XP_011510692.1:n.4984-287_4984-286del
XM_011512394.2:c.5089-287_5089-286del	XP_011510696.1:n.5089-287_5089-286del
XM_017005676.1:c.5089-287_5089-286del	XP_016861165.1:n.5089-287_5089-286del
XM_017005677.1:c.5086-287_5086-286del	XP_016861166.1:n.5086-287_5086-286del
XM_017005678.1:c.5089-287_5089-286del	XP_016861167.1:n.5089-287_5089-286del
XM_017005679.1:c.4819-287_4819-286del	XP_016861168.1:n.4819-287_4819-286del
XM_017005680.1:c.4807-287_4807-286del	XP_016861169.1:n.4807-287_4807-286del
XM_017005681.1:c.2476-287_2476-286del	XP_016861170.1:n.2476-287_2476-286del
XR_001740000.1:n.5486-287_5486-286del
NM_001393769.1:c.5089-287_5089-286del MANE Select	NP_001380698.1:n.5089-287_5089-286del
NM_053002.6:c.4984-287_4984-286del	NP_443728.3:n.4984-287_4984-286del