Canonical Allele Identifier: CA2743277075

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092218_40092319del , CM000663.2:g.40092218_40092319del	GRCh38
NC_000001.10:g.40557890_40557991del , CM000663.1:g.40557890_40557991del	GRCh37
NC_000001.9:g.40330477_40330578del	NCBI36
NG_009192.1:g.10161_10262del , LRG_690:g.10161_10262del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*70+88_*71-37del	ENSP00000361865.5:n.*70+88_*71-37del
ENST00000433473.8:c.231+88_232-37del	ENSP00000394863.4:n.231+88_232-37del
ENST00000439754.6:c.234+88_235-37del	ENSP00000403207.2:n.234+88_235-37del
ENST00000449045.7:c.125-2798_125-2697del	ENSP00000392293.2:n.125-2798_125-2697del
ENST00000526547.2:c.514+88_515-37del
ENST00000527311.7:c.234+88_234+189del	ENSP00000436695.3:n.234+88_234+189del
ENST00000530704.6:c.234+88_235-37del	ENSP00000431655.1:n.234+88_235-37del
ENST00000641083.1:c.212+88_213-37del
ENST00000641236.1:n.334_435del
ENST00000641319.1:c.234+88_235-37del	ENSP00000493128.1:n.234+88_235-37del
ENST00000641471.1:c.321+88_322-37del	ENSP00000493146.1:n.321+88_322-37del
ENST00000641548.1:c.*86+88_*87-37del	ENSP00000492984.1:n.*86+88_*87-37del
ENST00000641691.1:c.*86+88_*87-37del	ENSP00000492910.1:n.*86+88_*87-37del
ENST00000641924.1:c.124+4805_124+4906del	ENSP00000493063.1:n.124+4805_124+4906del
ENST00000642050.2:c.234+88_235-37del MANE Select	ENSP00000493153.1:n.234+88_235-37del
ENST00000372779.8:c.321+88_322-37del	ENSP00000361865.4:n.321+88_322-37del
ENST00000433473.7:c.234+88_235-37del	ENSP00000394863.3:n.234+88_235-37del
ENST00000449045.6:c.125-2798_125-2697del	ENSP00000392293.2:n.125-2798_125-2697del
ENST00000526547.1:c.84+88_85-37del	ENSP00000436481.1:n.84+88_85-37del
ENST00000527311.6:c.125-253_125-152del	ENSP00000436695.2:n.125-253_125-152del
ENST00000529905.5:c.234+88_235-37del	ENSP00000432053.1:n.234+88_235-37del
ENST00000530704.5:c.234+88_235-37del	ENSP00000431655.1:n.234+88_235-37del
NM_000310.3:c.234+88_235-37del , LRG_690t1:c.234+88_235-37del	NP_000301.1:n.234+88_235-37del
NM_001142604.1:c.125-2798_125-2697del	NP_001136076.1:n.125-2798_125-2697del
XM_005271008.1:c.234+88_235-37del	XP_005271065.1:n.234+88_235-37del
NM_001363695.1:c.234+88_235-37del	NP_001350624.1:n.234+88_235-37del
NM_000310.4:c.234+88_235-37del MANE Select	NP_000301.1:n.234+88_235-37del
NM_001142604.2:c.125-2798_125-2697del	NP_001136076.1:n.125-2798_125-2697del
NM_001363695.2:c.234+88_235-37del	NP_001350624.1:n.234+88_235-37del