Canonical Allele Identifier: CA546990967

Gene: MED12L

Linked Data

• dbSNP Id: rs1401889978
• gnomAD v2: 3-151105067-CTAA-C
• gnomAD v3: 3-151387279-CTAA-C
• gnomAD v4: 3-151387279-CTAA-C
• MyVariant Identifiers: chr3:g.151105068_151105070del (hg19) ; chr3:g.151387280_151387282del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.151387288_151387290del , CM000665.2:g.151387288_151387290del	GRCh38
NC_000003.11:g.151105076_151105078del , CM000665.1:g.151105076_151105078del	GRCh37
NC_000003.10:g.152587766_152587768del	NCBI36
NG_016019.1:g.2475_2477del , LRG_569:g.2475_2477del
NG_021244.1:g.305401_305403del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687756.1:c.5089-522_5089-520del MANE Select	ENSP00000508695.1:n.5089-522_5089-520del
ENST00000273432.8:c.4564-522_4564-520del	ENSP00000273432.4:n.4564-522_4564-520del
ENST00000474524.5:c.4984-522_4984-520del	ENSP00000417235.1:n.4984-522_4984-520del
NM_053002.5:c.4984-522_4984-520del	NP_443728.3:n.4984-522_4984-520del
XM_006713487.2:c.5089-522_5089-520del	XP_006713550.1:n.5089-522_5089-520del
XM_011512386.1:c.5089-522_5089-520del	XP_011510688.1:n.5089-522_5089-520del
XM_011512387.1:c.5086-522_5086-520del	XP_011510689.1:n.5086-522_5086-520del
XM_011512388.1:c.5089-522_5089-520del	XP_011510690.1:n.5089-522_5089-520del
XM_011512389.1:c.4984-522_4984-520del	XP_011510691.1:n.4984-522_4984-520del
XM_011512390.1:c.4984-522_4984-520del	XP_011510692.1:n.4984-522_4984-520del
XM_011512391.1:c.4819-522_4819-520del	XP_011510693.1:n.4819-522_4819-520del
XM_011512392.1:c.4633-522_4633-520del	XP_011510694.1:n.4633-522_4633-520del
XM_011512393.1:c.5089-522_5089-520del	XP_011510695.1:n.5089-522_5089-520del
XM_011512394.1:c.5089-522_5089-520del	XP_011510696.1:n.5089-522_5089-520del
XM_011512395.1:c.5089-522_5089-520del	XP_011510697.1:n.5089-522_5089-520del
XM_011512396.1:c.3514-522_3514-520del	XP_011510698.1:n.3514-522_3514-520del
XM_011512397.1:c.2956-522_2956-520del	XP_011510699.1:n.2956-522_2956-520del
XM_011512398.1:c.2884-522_2884-520del	XP_011510700.1:n.2884-522_2884-520del
XM_011512400.1:c.1906-522_1906-520del	XP_011510702.1:n.1906-522_1906-520del
XM_006713487.3:c.5089-522_5089-520del	XP_006713550.1:n.5089-522_5089-520del
XM_011512390.2:c.4984-522_4984-520del	XP_011510692.1:n.4984-522_4984-520del
XM_011512394.2:c.5089-522_5089-520del	XP_011510696.1:n.5089-522_5089-520del
XM_017005676.1:c.5089-522_5089-520del	XP_016861165.1:n.5089-522_5089-520del
XM_017005677.1:c.5086-522_5086-520del	XP_016861166.1:n.5086-522_5086-520del
XM_017005678.1:c.5089-522_5089-520del	XP_016861167.1:n.5089-522_5089-520del
XM_017005679.1:c.4819-522_4819-520del	XP_016861168.1:n.4819-522_4819-520del
XM_017005680.1:c.4807-522_4807-520del	XP_016861169.1:n.4807-522_4807-520del
XM_017005681.1:c.2476-522_2476-520del	XP_016861170.1:n.2476-522_2476-520del
XR_001740000.1:n.5486-522_5486-520del
NM_001393769.1:c.5089-522_5089-520del MANE Select	NP_001380698.1:n.5089-522_5089-520del
NM_053002.6:c.4984-522_4984-520del	NP_443728.3:n.4984-522_4984-520del