Canonical Allele Identifier: CA730201435

Gene: PPP1R12B

Linked Data

• dbSNP Id: rs1181387655
• gnomAD v3: 1-202500553-TAG-T
• gnomAD v4: 1-202500553-TAG-T
• MyVariant Identifiers: chr1:g.202469682_202469683del (hg19) ; chr1:g.202500554_202500555del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.202500558_202500559del , CM000663.2:g.202500558_202500559del	GRCh38
NC_000001.10:g.202469686_202469687del , CM000663.1:g.202469686_202469687del	GRCh37
NC_000001.9:g.200736309_200736310del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000704899.1:c.2490+3736_2490+3737del	ENSP00000516058.1:n.2490+3736_2490+3737de...
ENST00000608999.6:c.2490+3736_2490+3737del MANE Select	ENSP00000476755.1:n.2490+3736_2490+3737de...
ENST00000290419.9:c.168+3736_168+3737del	ENSP00000484005.1:n.168+3736_168+3737del
ENST00000391959.5:c.2673+3736_2673+3737del	ENSP00000375821.5:n.2673+3736_2673+3737de...
ENST00000466273.6:c.5-1301_5-1300del
ENST00000491336.5:c.168+3736_168+3737del	ENSP00000480852.1:n.168+3736_168+3737del
ENST00000498070.5:n.1131-1301_1131-1300del
ENST00000608999.5:c.2490+3736_2490+3737del	ENSP00000476755.1:n.2490+3736_2490+3737de...
NM_002481.3:c.2490+3736_2490+3737del	NP_002472.2:n.2490+3736_2490+3737del
NM_032103.2:c.168+3736_168+3737del	NP_115286.1:n.168+3736_168+3737del
NM_032104.2:c.168+3736_168+3737del	NP_115287.1:n.168+3736_168+3737del
XM_011509573.1:c.2674-1301_2674-1300del	XP_011507875.1:n.2674-1301_2674-1300del
XM_011509574.1:c.2674-1301_2674-1300del	XP_011507876.1:n.2674-1301_2674-1300del
XM_011509575.1:c.2674-1301_2674-1300del	XP_011507877.1:n.2674-1301_2674-1300del
NM_001331029.1:c.2673+3736_2673+3737del	NP_001317958.1:n.2673+3736_2673+3737del
XM_017001342.1:c.2673+3736_2673+3737del	XP_016856831.1:n.2673+3736_2673+3737del
XM_017001343.1:c.2673+3736_2673+3737del	XP_016856832.1:n.2673+3736_2673+3737del
XM_017001345.1:c.2673+3736_2673+3737del	XP_016856834.1:n.2673+3736_2673+3737del
XM_017001346.1:c.2490+3736_2490+3737del	XP_016856835.1:n.2490+3736_2490+3737del
XM_017001347.1:c.2490+3736_2490+3737del	XP_016856836.1:n.2490+3736_2490+3737del
XM_017001348.1:c.2490+3736_2490+3737del	XP_016856837.1:n.2490+3736_2490+3737del
XM_017001350.1:c.1908+3736_1908+3737del	XP_016856839.1:n.1908+3736_1908+3737del
XM_017001352.1:c.168+3736_168+3737del	XP_016856841.1:n.168+3736_168+3737del
XM_017001353.1:c.168+3736_168+3737del	XP_016856842.1:n.168+3736_168+3737del
XM_017001354.1:c.168+3736_168+3737del	XP_016856843.1:n.168+3736_168+3737del
XR_001737195.1:n.2824-1301_2824-1300del
XR_001737196.2:n.2824-1301_2824-1300del
XR_001737197.1:n.2824-1304_2824-1303del
XR_001737198.1:n.2641-1301_2641-1300del
XR_001737199.1:n.2641-1301_2641-1300del
XR_001737200.1:n.2641-1304_2641-1303del
XR_001737201.2:n.2641-1304_2641-1303del
XR_002956646.1:n.2823+3736_2823+3737del
NM_002481.4:c.2490+3736_2490+3737del MANE Select	NP_002472.2:n.2490+3736_2490+3737del
NM_001331029.2:c.2673+3736_2673+3737del	NP_001317958.1:n.2673+3736_2673+3737del
NM_032103.3:c.168+3736_168+3737del	NP_115286.1:n.168+3736_168+3737del
NM_032104.3:c.168+3736_168+3737del	NP_115287.1:n.168+3736_168+3737del