Canonical Allele Identifier: CA2645092242

Gene: PPT1

Linked Data

• gnomAD v4: 1-40091260-ATTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091267_40091269del , CM000663.2:g.40091267_40091269del	GRCh38
NC_000001.10:g.40556939_40556941del , CM000663.1:g.40556939_40556941del	GRCh37
NC_000001.9:g.40329526_40329528del	NCBI36
NG_009192.1:g.11208_11210del , LRG_690:g.11208_11210del

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*269+66_*269+68del	ENSP00000361865.5:n.*269+66_*269+68del
ENST00000433473.8:c.430+66_430+68del	ENSP00000394863.4:n.430+66_430+68del
ENST00000439754.6:c.433+66_433+68del	ENSP00000403207.2:n.433+66_433+68del
ENST00000449045.7:c.125-1751_125-1749del	ENSP00000392293.2:n.125-1751_125-1749del
ENST00000526547.2:c.713+66_713+68del
ENST00000527311.7:c.305+66_305+68del	ENSP00000436695.3:n.305+66_305+68del
ENST00000530704.6:c.433+66_433+68del	ENSP00000431655.1:n.433+66_433+68del
ENST00000641083.1:c.411+66_411+68del
ENST00000641236.1:n.670+66_670+68del
ENST00000641319.1:c.433+66_433+68del	ENSP00000493128.1:n.433+66_433+68del
ENST00000641381.1:c.45+66_45+68del
ENST00000641471.1:c.520+66_520+68del	ENSP00000493146.1:n.520+66_520+68del
ENST00000641548.1:c.*285+66_*285+68del	ENSP00000492984.1:n.*285+66_*285+68del
ENST00000641691.1:c.*285+66_*285+68del	ENSP00000492910.1:n.*285+66_*285+68del
ENST00000641924.1:c.124+5852_124+5854del	ENSP00000493063.1:n.124+5852_124+5854del
ENST00000642050.2:c.433+66_433+68del MANE Select	ENSP00000493153.1:n.433+66_433+68del
ENST00000372779.8:c.520+66_520+68del	ENSP00000361865.4:n.520+66_520+68del
ENST00000433473.7:c.433+66_433+68del	ENSP00000394863.3:n.433+66_433+68del
ENST00000439754.5:c.118+66_118+68del	ENSP00000403207.1:n.118+66_118+68del
ENST00000449045.6:c.125-1751_125-1749del	ENSP00000392293.2:n.125-1751_125-1749del
ENST00000526547.1:c.283+66_283+68del	ENSP00000436481.1:n.283+66_283+68del
ENST00000527311.6:c.208+66_208+68del	ENSP00000436695.2:n.208+66_208+68del
ENST00000529905.5:c.433+66_433+68del	ENSP00000432053.1:n.433+66_433+68del
ENST00000530704.5:c.433+66_433+68del	ENSP00000431655.1:n.433+66_433+68del
NM_000310.3:c.433+66_433+68del , LRG_690t1:c.433+66_433+68del	NP_000301.1:n.433+66_433+68del
NM_001142604.1:c.125-1751_125-1749del	NP_001136076.1:n.125-1751_125-1749del
XM_005271008.1:c.433+66_433+68del	XP_005271065.1:n.433+66_433+68del
NM_001363695.1:c.433+66_433+68del	NP_001350624.1:n.433+66_433+68del
NM_000310.4:c.433+66_433+68del MANE Select	NP_000301.1:n.433+66_433+68del
NM_001142604.2:c.125-1751_125-1749del	NP_001136076.1:n.125-1751_125-1749del
NM_001363695.2:c.433+66_433+68del	NP_001350624.1:n.433+66_433+68del