Canonical Allele Identifier: CA2743277248

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092606_40092607insAGAG , CM000663.2:g.40092606_40092607insAGAG	GRCh38
NC_000001.10:g.40558278_40558279insAGAG , CM000663.1:g.40558278_40558279insAGAG	GRCh37
NC_000001.9:g.40330865_40330866insAGAG	NCBI36
NG_009192.1:g.9864_9865insCTCT , LRG_690:g.9864_9865insCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.129-100_129-99insCTCT	ENSP00000361865.5:n.129-100_129-99insCTCT
ENST00000433473.8:c.125-103_125-102insCTCT	ENSP00000394863.4:n.125-103_125-102insCTCT
ENST00000439754.6:c.125-100_125-99insCTCT	ENSP00000403207.2:n.125-100_125-99insCTCT
ENST00000449045.7:c.125-3095_125-3094insCTCT	ENSP00000392293.2:n.125-3095_125-3094insCTCT
ENST00000526547.2:c.405-100_405-99insCTCT
ENST00000527311.7:c.125-100_125-99insCTCT	ENSP00000436695.3:n.125-100_125-99insCTCT
ENST00000530704.6:c.125-100_125-99insCTCT	ENSP00000431655.1:n.125-100_125-99insCTCT
ENST00000641083.1:c.103-100_103-99insCTCT
ENST00000641236.1:n.137-100_137-99insCTCT
ENST00000641319.1:c.125-100_125-99insCTCT	ENSP00000493128.1:n.125-100_125-99insCTCT
ENST00000641471.1:c.212-100_212-99insCTCT	ENSP00000493146.1:n.212-100_212-99insCTCT
ENST00000641548.1:c.125-107_125-106insCTCT	ENSP00000492984.1:n.125-107_125-106insCTCT
ENST00000641691.1:c.125-107_125-106insCTCT	ENSP00000492910.1:n.125-107_125-106insCTCT
ENST00000641924.1:c.124+4508_124+4509insCTCT	ENSP00000493063.1:n.124+4508_124+4509insCTCT
ENST00000642050.2:c.125-100_125-99insCTCT MANE Select	ENSP00000493153.1:n.125-100_125-99insCTCT
ENST00000372779.8:c.212-100_212-99insCTCT	ENSP00000361865.4:n.212-100_212-99insCTCT
ENST00000433473.7:c.125-100_125-99insCTCT	ENSP00000394863.3:n.125-100_125-99insCTCT
ENST00000449045.6:c.125-3095_125-3094insCTCT	ENSP00000392293.2:n.125-3095_125-3094insCTCT
ENST00000526547.1:c.-26-100_-26-99insCTCT	ENSP00000436481.1:n.-26-100_-26-99insCTCT
ENST00000527311.6:c.125-550_125-549insCTCT	ENSP00000436695.2:n.125-550_125-549insCTCT
ENST00000529905.5:c.125-100_125-99insCTCT	ENSP00000432053.1:n.125-100_125-99insCTCT
ENST00000530704.5:c.125-100_125-99insCTCT	ENSP00000431655.1:n.125-100_125-99insCTCT
NM_000310.3:c.125-100_125-99insCTCT , LRG_690t1:c.125-100_125-99insCTCT	NP_000301.1:n.125-100_125-99insCTCT
NM_001142604.1:c.125-3095_125-3094insCTCT	NP_001136076.1:n.125-3095_125-3094insCTCT
XM_005271008.1:c.125-100_125-99insCTCT	XP_005271065.1:n.125-100_125-99insCTCT
NM_001363695.1:c.125-100_125-99insCTCT	NP_001350624.1:n.125-100_125-99insCTCT
NM_000310.4:c.125-100_125-99insCTCT MANE Select	NP_000301.1:n.125-100_125-99insCTCT
NM_001142604.2:c.125-3095_125-3094insCTCT	NP_001136076.1:n.125-3095_125-3094insCTCT
NM_001363695.2:c.125-100_125-99insCTCT	NP_001350624.1:n.125-100_125-99insCTCT