Canonical Allele Identifier: CA1411096333
Gene: MED12L HGNC NCBI
P2RY12 HGNC NCBI

Linked Data

dbSNP Id: rs1712547160

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.151382436_151382443del , CM000665.2:g.151382436_151382443del GRCh38
NC_000003.11:g.151100224_151100231del , CM000665.1:g.151100224_151100231del GRCh37
NC_000003.10:g.152582914_152582921del NCBI36
NG_016019.1:g.7321_7328del , LRG_569:g.7321_7328del
NG_021244.1:g.300549_300556del

Transcript Alleles

HGVS Amino-acid Change
ENST00000686666.1:c.4204-220_4204-213del (MED12L) ENSP00000509482.1:n.4204-220_4204-213del
ENST00000687756.1:c.4591-220_4591-213del (MED12L) MANE Select ENSP00000508695.1:n.4591-220_4591-213del
ENST00000302632.4:c.-180+2256_-180+2263del (P2RY12) MANE Select ENSP00000307259.4:n.-180+2256_-180+2263del
ENST00000273432.8:c.4066-220_4066-213del (MED12L) ENSP00000273432.4:n.4066-220_4066-213del
ENST00000302632.3:c.-180+2256_-180+2263del (P2RY12) ENSP00000307259.3:n.-180+2256_-180+2263del
ENST00000474524.5:c.4486-220_4486-213del (MED12L) ENSP00000417235.1:n.4486-220_4486-213del
NM_022788.4:c.-180+2256_-180+2263del , LRG_569t1:c.-180+2256_-180+2263del (P2RY12) NP_073625.1:n.-180+2256_-180+2263del
NM_053002.5:c.4486-220_4486-213del (MED12L) NP_443728.3:n.4486-220_4486-213del
XM_006713487.2:c.4591-220_4591-213del (MED12L) XP_006713550.1:n.4591-220_4591-213del
XM_011512386.1:c.4591-220_4591-213del (MED12L) XP_011510688.1:n.4591-220_4591-213del
XM_011512387.1:c.4588-220_4588-213del (MED12L) XP_011510689.1:n.4588-220_4588-213del
XM_011512388.1:c.4591-220_4591-213del (MED12L) XP_011510690.1:n.4591-220_4591-213del
XM_011512389.1:c.4486-220_4486-213del (MED12L) XP_011510691.1:n.4486-220_4486-213del
XM_011512390.1:c.4486-220_4486-213del (MED12L) XP_011510692.1:n.4486-220_4486-213del
XM_011512391.1:c.4321-220_4321-213del (MED12L) XP_011510693.1:n.4321-220_4321-213del
XM_011512392.1:c.4135-220_4135-213del (MED12L) XP_011510694.1:n.4135-220_4135-213del
XM_011512393.1:c.4591-220_4591-213del (MED12L) XP_011510695.1:n.4591-220_4591-213del
XM_011512394.1:c.4591-220_4591-213del (MED12L) XP_011510696.1:n.4591-220_4591-213del
XM_011512395.1:c.4591-220_4591-213del (MED12L) XP_011510697.1:n.4591-220_4591-213del
XM_011512396.1:c.3016-220_3016-213del (MED12L) XP_011510698.1:n.3016-220_3016-213del
XM_011512397.1:c.2458-220_2458-213del (MED12L) XP_011510699.1:n.2458-220_2458-213del
XM_011512398.1:c.2386-220_2386-213del (MED12L) XP_011510700.1:n.2386-220_2386-213del
XM_011512400.1:c.1408-220_1408-213del (MED12L) XP_011510702.1:n.1408-220_1408-213del
XM_006713487.3:c.4591-220_4591-213del (MED12L) XP_006713550.1:n.4591-220_4591-213del
XM_011512390.2:c.4486-220_4486-213del (MED12L) XP_011510692.1:n.4486-220_4486-213del
XM_011512394.2:c.4591-220_4591-213del (MED12L) XP_011510696.1:n.4591-220_4591-213del
XM_017005676.1:c.4591-220_4591-213del (MED12L) XP_016861165.1:n.4591-220_4591-213del
XM_017005677.1:c.4588-220_4588-213del (MED12L) XP_016861166.1:n.4588-220_4588-213del
XM_017005678.1:c.4591-220_4591-213del (MED12L) XP_016861167.1:n.4591-220_4591-213del
XM_017005679.1:c.4321-220_4321-213del (MED12L) XP_016861168.1:n.4321-220_4321-213del
XM_017005680.1:c.4309-220_4309-213del (MED12L) XP_016861169.1:n.4309-220_4309-213del
XM_017005681.1:c.1978-220_1978-213del (MED12L) XP_016861170.1:n.1978-220_1978-213del
XR_001740000.1:n.4992-220_4992-213del (MED12L)
NM_022788.5:c.-180+2256_-180+2263del (P2RY12) MANE Select NP_073625.1:n.-180+2256_-180+2263del
NM_001393769.1:c.4591-220_4591-213del (MED12L) MANE Select NP_001380698.1:n.4591-220_4591-213del
NM_053002.6:c.4486-220_4486-213del (MED12L) NP_443728.3:n.4486-220_4486-213del