Canonical Allele Identifier: CA2743277076

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092210_40092211insAGG , CM000663.2:g.40092210_40092211insAGG	GRCh38
NC_000001.10:g.40557882_40557883insAGG , CM000663.1:g.40557882_40557883insAGG	GRCh37
NC_000001.9:g.40330469_40330470insAGG	NCBI36
NG_009192.1:g.10260_10261insCCT , LRG_690:g.10260_10261insCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*71-39_*71-38insCCT	ENSP00000361865.5:n.*71-39_*71-38insCCT
ENST00000433473.8:c.232-39_232-38insCCT	ENSP00000394863.4:n.232-39_232-38insCCT
ENST00000439754.6:c.235-39_235-38insCCT	ENSP00000403207.2:n.235-39_235-38insCCT
ENST00000449045.7:c.125-2699_125-2698insCCT	ENSP00000392293.2:n.125-2699_125-2698insCCT
ENST00000526547.2:c.515-39_515-38insCCT
ENST00000527311.7:c.234+187_234+188insCCT	ENSP00000436695.3:n.234+187_234+188insCCT
ENST00000530704.6:c.235-39_235-38insCCT	ENSP00000431655.1:n.235-39_235-38insCCT
ENST00000641083.1:c.213-39_213-38insCCT
ENST00000641236.1:n.433_434insCCT
ENST00000641319.1:c.235-39_235-38insCCT	ENSP00000493128.1:n.235-39_235-38insCCT
ENST00000641471.1:c.322-39_322-38insCCT	ENSP00000493146.1:n.322-39_322-38insCCT
ENST00000641548.1:c.*87-39_*87-38insCCT	ENSP00000492984.1:n.*87-39_*87-38insCCT
ENST00000641691.1:c.*87-39_*87-38insCCT	ENSP00000492910.1:n.*87-39_*87-38insCCT
ENST00000641924.1:c.124+4904_124+4905insCCT	ENSP00000493063.1:n.124+4904_124+4905insCCT
ENST00000642050.2:c.235-39_235-38insCCT MANE Select	ENSP00000493153.1:n.235-39_235-38insCCT
ENST00000372779.8:c.322-39_322-38insCCT	ENSP00000361865.4:n.322-39_322-38insCCT
ENST00000433473.7:c.235-39_235-38insCCT	ENSP00000394863.3:n.235-39_235-38insCCT
ENST00000449045.6:c.125-2699_125-2698insCCT	ENSP00000392293.2:n.125-2699_125-2698insCCT
ENST00000526547.1:c.85-39_85-38insCCT	ENSP00000436481.1:n.85-39_85-38insCCT
ENST00000527311.6:c.125-154_125-153insCCT	ENSP00000436695.2:n.125-154_125-153insCCT
ENST00000529905.5:c.235-39_235-38insCCT	ENSP00000432053.1:n.235-39_235-38insCCT
ENST00000530704.5:c.235-39_235-38insCCT	ENSP00000431655.1:n.235-39_235-38insCCT
NM_000310.3:c.235-39_235-38insCCT , LRG_690t1:c.235-39_235-38insCCT	NP_000301.1:n.235-39_235-38insCCT
NM_001142604.1:c.125-2699_125-2698insCCT	NP_001136076.1:n.125-2699_125-2698insCCT
XM_005271008.1:c.235-39_235-38insCCT	XP_005271065.1:n.235-39_235-38insCCT
NM_001363695.1:c.235-39_235-38insCCT	NP_001350624.1:n.235-39_235-38insCCT
NM_000310.4:c.235-39_235-38insCCT MANE Select	NP_000301.1:n.235-39_235-38insCCT
NM_001142604.2:c.125-2699_125-2698insCCT	NP_001136076.1:n.125-2699_125-2698insCCT
NM_001363695.2:c.235-39_235-38insCCT	NP_001350624.1:n.235-39_235-38insCCT