Canonical Allele Identifier: CA900693117

Gene: MED12L P2RY12

Linked Data

• dbSNP Id: rs1333530925
• gnomAD v4: 3-151382537-CTTTG-C
• MyVariant Identifiers: chr3:g.151100326_151100329del (hg19) ; chr3:g.151382538_151382541del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.151382544_151382547del , CM000665.2:g.151382544_151382547del	GRCh38
NC_000003.11:g.151100332_151100335del , CM000665.1:g.151100332_151100335del	GRCh37
NC_000003.10:g.152583022_152583025del	NCBI36
NG_016019.1:g.7216_7219del , LRG_569:g.7216_7219del
NG_021244.1:g.300657_300660del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686666.1:c.4204-112_4204-109del (MED12L)	ENSP00000509482.1:n.4204-112_4204-109del
ENST00000687756.1:c.4591-112_4591-109del (MED12L) MANE Select	ENSP00000508695.1:n.4591-112_4591-109del
ENST00000302632.4:c.-180+2151_-180+2154del (P2RY12) MANE Select	ENSP00000307259.4:n.-180+2151_-180+2154del
ENST00000273432.8:c.4066-112_4066-109del (MED12L)	ENSP00000273432.4:n.4066-112_4066-109del
ENST00000302632.3:c.-180+2151_-180+2154del (P2RY12)	ENSP00000307259.3:n.-180+2151_-180+2154del
ENST00000474524.5:c.4486-112_4486-109del (MED12L)	ENSP00000417235.1:n.4486-112_4486-109del
NM_022788.4:c.-180+2151_-180+2154del , LRG_569t1:c.-180+2151_-180+2154del (P2RY12)	NP_073625.1:n.-180+2151_-180+2154del
NM_053002.5:c.4486-112_4486-109del (MED12L)	NP_443728.3:n.4486-112_4486-109del
XM_006713487.2:c.4591-112_4591-109del (MED12L)	XP_006713550.1:n.4591-112_4591-109del
XM_011512386.1:c.4591-112_4591-109del (MED12L)	XP_011510688.1:n.4591-112_4591-109del
XM_011512387.1:c.4588-112_4588-109del (MED12L)	XP_011510689.1:n.4588-112_4588-109del
XM_011512388.1:c.4591-112_4591-109del (MED12L)	XP_011510690.1:n.4591-112_4591-109del
XM_011512389.1:c.4486-112_4486-109del (MED12L)	XP_011510691.1:n.4486-112_4486-109del
XM_011512390.1:c.4486-112_4486-109del (MED12L)	XP_011510692.1:n.4486-112_4486-109del
XM_011512391.1:c.4321-112_4321-109del (MED12L)	XP_011510693.1:n.4321-112_4321-109del
XM_011512392.1:c.4135-112_4135-109del (MED12L)	XP_011510694.1:n.4135-112_4135-109del
XM_011512393.1:c.4591-112_4591-109del (MED12L)	XP_011510695.1:n.4591-112_4591-109del
XM_011512394.1:c.4591-112_4591-109del (MED12L)	XP_011510696.1:n.4591-112_4591-109del
XM_011512395.1:c.4591-112_4591-109del (MED12L)	XP_011510697.1:n.4591-112_4591-109del
XM_011512396.1:c.3016-112_3016-109del (MED12L)	XP_011510698.1:n.3016-112_3016-109del
XM_011512397.1:c.2458-112_2458-109del (MED12L)	XP_011510699.1:n.2458-112_2458-109del
XM_011512398.1:c.2386-112_2386-109del (MED12L)	XP_011510700.1:n.2386-112_2386-109del
XM_011512400.1:c.1408-112_1408-109del (MED12L)	XP_011510702.1:n.1408-112_1408-109del
XM_006713487.3:c.4591-112_4591-109del (MED12L)	XP_006713550.1:n.4591-112_4591-109del
XM_011512390.2:c.4486-112_4486-109del (MED12L)	XP_011510692.1:n.4486-112_4486-109del
XM_011512394.2:c.4591-112_4591-109del (MED12L)	XP_011510696.1:n.4591-112_4591-109del
XM_017005676.1:c.4591-112_4591-109del (MED12L)	XP_016861165.1:n.4591-112_4591-109del
XM_017005677.1:c.4588-112_4588-109del (MED12L)	XP_016861166.1:n.4588-112_4588-109del
XM_017005678.1:c.4591-112_4591-109del (MED12L)	XP_016861167.1:n.4591-112_4591-109del
XM_017005679.1:c.4321-112_4321-109del (MED12L)	XP_016861168.1:n.4321-112_4321-109del
XM_017005680.1:c.4309-112_4309-109del (MED12L)	XP_016861169.1:n.4309-112_4309-109del
XM_017005681.1:c.1978-112_1978-109del (MED12L)	XP_016861170.1:n.1978-112_1978-109del
XR_001740000.1:n.4992-112_4992-109del (MED12L)
NM_022788.5:c.-180+2151_-180+2154del (P2RY12) MANE Select	NP_073625.1:n.-180+2151_-180+2154del
NM_001393769.1:c.4591-112_4591-109del (MED12L) MANE Select	NP_001380698.1:n.4591-112_4591-109del
NM_053002.6:c.4486-112_4486-109del (MED12L)	NP_443728.3:n.4486-112_4486-109del