Canonical Allele Identifier: CA789715

Gene: PPT1

Linked Data

• ClinVar Variation Id: 507345
• ClinVar RCV Id: RCV000616981 ; RCV001435863
• dbSNP Id: rs750997143
• ExAC: 1:40556992 CAA / C
• gnomAD v2: 1-40556992-CAA-C
• gnomAD v3: 1-40091320-CAA-C
• gnomAD v4: 1-40091320-CAA-C
• MyVariant Identifiers: chr1:g.40556993_40556994del (hg19) ; chr1:g.40091321_40091322del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091322_40091323del , CM000663.2:g.40091322_40091323del	GRCh38
NC_000001.10:g.40556994_40556995del , CM000663.1:g.40556994_40556995del	GRCh37
NC_000001.9:g.40329581_40329582del	NCBI36
NG_009192.1:g.11149_11150del , LRG_690:g.11149_11150del

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*269+7_*269+8del	ENSP00000361865.5:n.*269+7_*269+8del
ENST00000433473.8:c.430+7_430+8del	ENSP00000394863.4:n.430+7_430+8del
ENST00000439754.6:c.433+7_433+8del	ENSP00000403207.2:n.433+7_433+8del
ENST00000449045.7:c.125-1810_125-1809del	ENSP00000392293.2:n.125-1810_125-1809del
ENST00000526547.2:c.713+7_713+8del
ENST00000527311.7:c.305+7_305+8del	ENSP00000436695.3:n.305+7_305+8del
ENST00000530704.6:c.433+7_433+8del	ENSP00000431655.1:n.433+7_433+8del
ENST00000641083.1:c.411+7_411+8del
ENST00000641236.1:n.670+7_670+8del
ENST00000641319.1:c.433+7_433+8del	ENSP00000493128.1:n.433+7_433+8del
ENST00000641381.1:c.45+7_45+8del
ENST00000641471.1:c.520+7_520+8del	ENSP00000493146.1:n.520+7_520+8del
ENST00000641548.1:c.*285+7_*285+8del	ENSP00000492984.1:n.*285+7_*285+8del
ENST00000641691.1:c.*285+7_*285+8del	ENSP00000492910.1:n.*285+7_*285+8del
ENST00000641924.1:c.124+5793_124+5794del	ENSP00000493063.1:n.124+5793_124+5794del
ENST00000642050.2:c.433+7_433+8del MANE Select	ENSP00000493153.1:n.433+7_433+8del
ENST00000372779.8:c.520+7_520+8del	ENSP00000361865.4:n.520+7_520+8del
ENST00000433473.7:c.433+7_433+8del	ENSP00000394863.3:n.433+7_433+8del
ENST00000439754.5:c.118+7_118+8del	ENSP00000403207.1:n.118+7_118+8del
ENST00000449045.6:c.125-1810_125-1809del	ENSP00000392293.2:n.125-1810_125-1809del
ENST00000526547.1:c.283+7_283+8del	ENSP00000436481.1:n.283+7_283+8del
ENST00000527311.6:c.208+7_208+8del	ENSP00000436695.2:n.208+7_208+8del
ENST00000529905.5:c.433+7_433+8del	ENSP00000432053.1:n.433+7_433+8del
ENST00000530704.5:c.433+7_433+8del	ENSP00000431655.1:n.433+7_433+8del
NM_000310.3:c.433+7_433+8del , LRG_690t1:c.433+7_433+8del	NP_000301.1:n.433+7_433+8del
NM_001142604.1:c.125-1810_125-1809del	NP_001136076.1:n.125-1810_125-1809del
XM_005271008.1:c.433+7_433+8del	XP_005271065.1:n.433+7_433+8del
NM_001363695.1:c.433+7_433+8del	NP_001350624.1:n.433+7_433+8del
NM_000310.4:c.433+7_433+8del MANE Select	NP_000301.1:n.433+7_433+8del
NM_001142604.2:c.125-1810_125-1809del	NP_001136076.1:n.125-1810_125-1809del
NM_001363695.2:c.433+7_433+8del	NP_001350624.1:n.433+7_433+8del