Canonical Allele Identifier: CA1164243682

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074353_40074360delinsCTCTTTTT , CM000663.2:g.40074353_40074360delinsCTCTTTTT	GRCh38
NC_000001.10:g.40540025_40540032delinsCTCTTTTT , CM000663.1:g.40540025_40540032delinsCTCTTTTT	GRCh37
NC_000001.9:g.40312612_40312619delinsCTCTTTTT	NCBI36
NG_009192.1:g.28111_28118delinsAAAAAGAG , LRG_690:g.28111_28118delinsAAAAAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.796-177_796-170delinsAAAAAGAG	ENSP00000394863.4:n.796-177_796-170delinsAAAAAGAG
ENST00000439754.6:c.727-177_727-170delinsAAAAAGAG	ENSP00000403207.2:n.727-177_727-170delinsAAAAAGAG
ENST00000449045.7:c.490-177_490-170delinsAAAAAGAG	ENSP00000392293.2:n.490-177_490-170delinsAAAAAGAG
ENST00000527311.7:c.568-177_568-170delinsAAAAAGAG	ENSP00000436695.3:n.568-177_568-170delinsAAAAAGAG
ENST00000530076.6:c.142-177_142-170delinsAAAAAGAG	ENSP00000434007.1:n.142-177_142-170delinsAAAAAGAG
ENST00000530704.6:c.*422-177_*422-170delinsAAAAAGAG	ENSP00000431655.1:n.*422-177_*422-170delinsAAAAAGAG
ENST00000641083.1:c.889-177_889-170delinsAAAAAGAG
ENST00000641236.1:n.1036-177_1036-170delinsAAAAAGAG
ENST00000641319.1:c.*9-177_*9-170delinsAAAAAGAG	ENSP00000493128.1:n.*9-177_*9-170delinsAAAAAGAG
ENST00000641381.1:c.221-177_221-170delinsAAAAAGAG
ENST00000641471.1:c.886-177_886-170delinsAAAAAGAG	ENSP00000493146.1:n.886-177_886-170delinsAAAAAGAG
ENST00000641691.1:c.*651-177_*651-170delinsAAAAAGAG	ENSP00000492910.1:n.*651-177_*651-170delinsAAAAAGAG
ENST00000641924.1:c.*228-177_*228-170delinsAAAAAGAG	ENSP00000493063.1:n.*228-177_*228-170delinsAAAAAGAG
ENST00000642050.2:c.799-177_799-170delinsAAAAAGAG MANE Select	ENSP00000493153.1:n.799-177_799-170delinsAAAAAGAG
ENST00000372775.2:n.196-177_196-170delinsAAAAAGAG
ENST00000433473.7:c.799-177_799-170delinsAAAAAGAG	ENSP00000394863.3:n.799-177_799-170delinsAAAAAGAG
ENST00000439754.5:c.412-177_412-170delinsAAAAAGAG	ENSP00000403207.1:n.412-177_412-170delinsAAAAAGAG
ENST00000449045.6:c.490-177_490-170delinsAAAAAGAG	ENSP00000392293.2:n.490-177_490-170delinsAAAAAGAG
ENST00000527311.6:c.574-177_574-170delinsAAAAAGAG	ENSP00000436695.2:n.574-177_574-170delinsAAAAAGAG
ENST00000529905.5:c.799-177_799-170delinsAAAAAGAG	ENSP00000432053.1:n.799-177_799-170delinsAAAAAGAG
ENST00000530076.5:c.142-177_142-170delinsAAAAAGAG	ENSP00000434007.1:n.142-177_142-170delinsAAAAAGAG
ENST00000530704.5:c.*422-177_*422-170delinsAAAAAGAG	ENSP00000431655.1:n.*422-177_*422-170delinsAAAAAGAG
NM_000310.3:c.799-177_799-170delinsAAAAAGAG , LRG_690t1:c.799-177_799-170delinsAAAAAGAG	NP_000301.1:n.799-177_799-170delinsAAAAAGAG
NM_001142604.1:c.490-177_490-170delinsAAAAAGAG	NP_001136076.1:n.490-177_490-170delinsAAAAAGAG
XM_005271008.1:c.727-177_727-170delinsAAAAAGAG	XP_005271065.1:n.727-177_727-170delinsAAAAAGAG
NM_001363695.1:c.727-177_727-170delinsAAAAAGAG	NP_001350624.1:n.727-177_727-170delinsAAAAAGAG
NM_000310.4:c.799-177_799-170delinsAAAAAGAG MANE Select	NP_000301.1:n.799-177_799-170delinsAAAAAGAG
NM_001142604.2:c.490-177_490-170delinsAAAAAGAG	NP_001136076.1:n.490-177_490-170delinsAAAAAGAG
NM_001363695.2:c.727-177_727-170delinsAAAAAGAG	NP_001350624.1:n.727-177_727-170delinsAAAAAGAG