Canonical Allele Identifier: CA2743277203

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092575_40092586del , CM000663.2:g.40092575_40092586del	GRCh38
NC_000001.10:g.40558247_40558258del , CM000663.1:g.40558247_40558258del	GRCh37
NC_000001.9:g.40330834_40330845del	NCBI36
NG_009192.1:g.9885_9896del , LRG_690:g.9885_9896del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.129-79_129-68del	ENSP00000361865.5:n.129-79_129-68del
ENST00000433473.8:c.125-82_125-71del	ENSP00000394863.4:n.125-82_125-71del
ENST00000439754.6:c.125-79_125-68del	ENSP00000403207.2:n.125-79_125-68del
ENST00000449045.7:c.125-3074_125-3063del	ENSP00000392293.2:n.125-3074_125-3063del
ENST00000526547.2:c.405-79_405-68del
ENST00000527311.7:c.125-79_125-68del	ENSP00000436695.3:n.125-79_125-68del
ENST00000530704.6:c.125-79_125-68del	ENSP00000431655.1:n.125-79_125-68del
ENST00000641083.1:c.103-79_103-68del
ENST00000641236.1:n.137-79_137-68del
ENST00000641319.1:c.125-79_125-68del	ENSP00000493128.1:n.125-79_125-68del
ENST00000641471.1:c.212-79_212-68del	ENSP00000493146.1:n.212-79_212-68del
ENST00000641548.1:c.125-86_125-75del	ENSP00000492984.1:n.125-86_125-75del
ENST00000641691.1:c.125-86_125-75del	ENSP00000492910.1:n.125-86_125-75del
ENST00000641924.1:c.124+4529_124+4540del	ENSP00000493063.1:n.124+4529_124+4540del
ENST00000642050.2:c.125-79_125-68del MANE Select	ENSP00000493153.1:n.125-79_125-68del
ENST00000372779.8:c.212-79_212-68del	ENSP00000361865.4:n.212-79_212-68del
ENST00000433473.7:c.125-79_125-68del	ENSP00000394863.3:n.125-79_125-68del
ENST00000449045.6:c.125-3074_125-3063del	ENSP00000392293.2:n.125-3074_125-3063del
ENST00000526547.1:c.-26-79_-26-68del	ENSP00000436481.1:n.-26-79_-26-68del
ENST00000527311.6:c.125-529_125-518del	ENSP00000436695.2:n.125-529_125-518del
ENST00000529905.5:c.125-79_125-68del	ENSP00000432053.1:n.125-79_125-68del
ENST00000530704.5:c.125-79_125-68del	ENSP00000431655.1:n.125-79_125-68del
NM_000310.3:c.125-79_125-68del , LRG_690t1:c.125-79_125-68del	NP_000301.1:n.125-79_125-68del
NM_001142604.1:c.125-3074_125-3063del	NP_001136076.1:n.125-3074_125-3063del
XM_005271008.1:c.125-79_125-68del	XP_005271065.1:n.125-79_125-68del
NM_001363695.1:c.125-79_125-68del	NP_001350624.1:n.125-79_125-68del
NM_000310.4:c.125-79_125-68del MANE Select	NP_000301.1:n.125-79_125-68del
NM_001142604.2:c.125-3074_125-3063del	NP_001136076.1:n.125-3074_125-3063del
NM_001363695.2:c.125-79_125-68del	NP_001350624.1:n.125-79_125-68del