Canonical Allele Identifier: CA2743277195

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092570_40092714del , CM000663.2:g.40092570_40092714del	GRCh38
NC_000001.10:g.40558242_40558386del , CM000663.1:g.40558242_40558386del	GRCh37
NC_000001.9:g.40330829_40330973del	NCBI36
NG_009192.1:g.9757_9901del , LRG_690:g.9757_9901del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.129-207_129-63del	ENSP00000361865.5:n.129-207_129-63del
ENST00000433473.8:c.125-210_125-66del	ENSP00000394863.4:n.125-210_125-66del
ENST00000439754.6:c.125-207_125-63del	ENSP00000403207.2:n.125-207_125-63del
ENST00000449045.7:c.125-3202_125-3058del	ENSP00000392293.2:n.125-3202_125-3058del
ENST00000526547.2:c.405-207_405-63del
ENST00000527311.7:c.125-207_125-63del	ENSP00000436695.3:n.125-207_125-63del
ENST00000530704.6:c.125-207_125-63del	ENSP00000431655.1:n.125-207_125-63del
ENST00000641083.1:c.103-207_103-63del
ENST00000641236.1:n.137-207_137-63del
ENST00000641319.1:c.125-207_125-63del	ENSP00000493128.1:n.125-207_125-63del
ENST00000641471.1:c.212-207_212-63del	ENSP00000493146.1:n.212-207_212-63del
ENST00000641548.1:c.125-214_125-70del	ENSP00000492984.1:n.125-214_125-70del
ENST00000641691.1:c.125-214_125-70del	ENSP00000492910.1:n.125-214_125-70del
ENST00000641924.1:c.124+4401_124+4545del	ENSP00000493063.1:n.124+4401_124+4545del
ENST00000642050.2:c.125-207_125-63del MANE Select	ENSP00000493153.1:n.125-207_125-63del
ENST00000372779.8:c.212-207_212-63del	ENSP00000361865.4:n.212-207_212-63del
ENST00000433473.7:c.125-207_125-63del	ENSP00000394863.3:n.125-207_125-63del
ENST00000449045.6:c.125-3202_125-3058del	ENSP00000392293.2:n.125-3202_125-3058del
ENST00000526547.1:c.-26-207_-26-63del	ENSP00000436481.1:n.-26-207_-26-63del
ENST00000527311.6:c.125-657_125-513del	ENSP00000436695.2:n.125-657_125-513del
ENST00000529905.5:c.125-207_125-63del	ENSP00000432053.1:n.125-207_125-63del
ENST00000530704.5:c.125-207_125-63del	ENSP00000431655.1:n.125-207_125-63del
NM_000310.3:c.125-207_125-63del , LRG_690t1:c.125-207_125-63del	NP_000301.1:n.125-207_125-63del
NM_001142604.1:c.125-3202_125-3058del	NP_001136076.1:n.125-3202_125-3058del
XM_005271008.1:c.125-207_125-63del	XP_005271065.1:n.125-207_125-63del
NM_001363695.1:c.125-207_125-63del	NP_001350624.1:n.125-207_125-63del
NM_000310.4:c.125-207_125-63del MANE Select	NP_000301.1:n.125-207_125-63del
NM_001142604.2:c.125-3202_125-3058del	NP_001136076.1:n.125-3202_125-3058del
NM_001363695.2:c.125-207_125-63del	NP_001350624.1:n.125-207_125-63del