Canonical Allele Identifier: CA2645092233

Gene: PPT1

Linked Data

• gnomAD v4: 1-40091250-TAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091251_40091252del , CM000663.2:g.40091251_40091252del	GRCh38
NC_000001.10:g.40556923_40556924del , CM000663.1:g.40556923_40556924del	GRCh37
NC_000001.9:g.40329510_40329511del	NCBI36
NG_009192.1:g.11219_11220del , LRG_690:g.11219_11220del

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*269+77_*269+78del	ENSP00000361865.5:n.*269+77_*269+78del
ENST00000433473.8:c.430+77_430+78del	ENSP00000394863.4:n.430+77_430+78del
ENST00000439754.6:c.433+77_433+78del	ENSP00000403207.2:n.433+77_433+78del
ENST00000449045.7:c.125-1740_125-1739del	ENSP00000392293.2:n.125-1740_125-1739del
ENST00000526547.2:c.713+77_713+78del
ENST00000527311.7:c.305+77_305+78del	ENSP00000436695.3:n.305+77_305+78del
ENST00000530704.6:c.433+77_433+78del	ENSP00000431655.1:n.433+77_433+78del
ENST00000641083.1:c.411+77_411+78del
ENST00000641236.1:n.670+77_670+78del
ENST00000641319.1:c.433+77_433+78del	ENSP00000493128.1:n.433+77_433+78del
ENST00000641381.1:c.45+77_45+78del
ENST00000641471.1:c.520+77_520+78del	ENSP00000493146.1:n.520+77_520+78del
ENST00000641548.1:c.*285+77_*285+78del	ENSP00000492984.1:n.*285+77_*285+78del
ENST00000641691.1:c.*285+77_*285+78del	ENSP00000492910.1:n.*285+77_*285+78del
ENST00000641924.1:c.124+5863_124+5864del	ENSP00000493063.1:n.124+5863_124+5864del
ENST00000642050.2:c.433+77_433+78del MANE Select	ENSP00000493153.1:n.433+77_433+78del
ENST00000372779.8:c.520+77_520+78del	ENSP00000361865.4:n.520+77_520+78del
ENST00000433473.7:c.433+77_433+78del	ENSP00000394863.3:n.433+77_433+78del
ENST00000439754.5:c.118+77_118+78del	ENSP00000403207.1:n.118+77_118+78del
ENST00000449045.6:c.125-1740_125-1739del	ENSP00000392293.2:n.125-1740_125-1739del
ENST00000526547.1:c.283+77_283+78del	ENSP00000436481.1:n.283+77_283+78del
ENST00000527311.6:c.208+77_208+78del	ENSP00000436695.2:n.208+77_208+78del
ENST00000529905.5:c.433+77_433+78del	ENSP00000432053.1:n.433+77_433+78del
ENST00000530704.5:c.433+77_433+78del	ENSP00000431655.1:n.433+77_433+78del
NM_000310.3:c.433+77_433+78del , LRG_690t1:c.433+77_433+78del	NP_000301.1:n.433+77_433+78del
NM_001142604.1:c.125-1740_125-1739del	NP_001136076.1:n.125-1740_125-1739del
XM_005271008.1:c.433+77_433+78del	XP_005271065.1:n.433+77_433+78del
NM_001363695.1:c.433+77_433+78del	NP_001350624.1:n.433+77_433+78del
NM_000310.4:c.433+77_433+78del MANE Select	NP_000301.1:n.433+77_433+78del
NM_001142604.2:c.125-1740_125-1739del	NP_001136076.1:n.125-1740_125-1739del
NM_001363695.2:c.433+77_433+78del	NP_001350624.1:n.433+77_433+78del