Canonical Allele Identifier: CA916082015

Gene: PPT1

Linked Data

• ClinVar Variation Id: 846185
• ClinVar RCV Id: RCV001049428

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092280_40095905del , CM000663.2:g.40092280_40095905del	GRCh38
NC_000001.10:g.40557952_40561577del , CM000663.1:g.40557952_40561577del	GRCh37
NC_000001.9:g.40330539_40334164del	NCBI36
NG_009192.1:g.6571_10196del , LRG_690:g.6571_10196del

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.128+1211_*71-103del
ENST00000433473.8:c.124+1215_232-103del
ENST00000439754.6:c.124+1215_235-103del
ENST00000449045.7:c.124+1215_125-2763del	ENSP00000392293.2:n.124+1215_125-2763del
ENST00000526547.2:c.404+909_515-103del
ENST00000527311.7:c.124+1215_234+123del
ENST00000530704.6:c.124+1215_235-103del
ENST00000641083.1:c.102+1215_213-103del
ENST00000641236.1:n.136+1215_369del
ENST00000641319.1:c.124+1215_235-103del
ENST00000641471.1:c.124+1215_322-103del
ENST00000641548.1:c.124+1215_*87-103del
ENST00000641691.1:c.124+1215_*87-103del
ENST00000641924.1:c.124+1215_124+4840del	ENSP00000493063.1:n.124+1215_124+4840del
ENST00000642050.2:c.124+1215_235-103del
ENST00000372779.8:c.124+1215_322-103del
ENST00000433473.7:c.124+1215_235-103del
ENST00000449045.6:c.124+1215_125-2763del	ENSP00000392293.2:n.124+1215_125-2763del
ENST00000526547.1:c.-27+909_85-103del
ENST00000527311.6:c.124+1215_125-218del	ENSP00000436695.2:n.124+1215_125-218del
ENST00000529905.5:c.124+1215_235-103del
ENST00000530704.5:c.124+1215_235-103del
NM_000310.3:c.124+1215_235-103del , LRG_690t1:c.124+1215_235-103del
NM_001142604.1:c.124+1215_125-2763del	NP_001136076.1:n.124+1215_125-2763del
XM_005271008.1:c.124+1215_235-103del
NM_001363695.1:c.124+1215_235-103del
NM_000310.4:c.124+1215_235-103del
NM_001142604.2:c.124+1215_125-2763del	NP_001136076.1:n.124+1215_125-2763del
NM_001363695.2:c.124+1215_235-103del