Canonical Allele Identifier: CA2645090622

Gene: PPT1

Linked Data

• gnomAD v4: 1-40074063-A-ACTTGTCATCGTCGTCCTTGTAGTC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074063_40074064insCTTGTCATCGTCGTCCTTGTAGTC , CM000663.2:g.40074063_40074064insCTTGTCATCGTCGTCCTTGTAGTC	GRCh38
NC_000001.10:g.40539735_40539736insCTTGTCATCGTCGTCCTTGTAGTC , CM000663.1:g.40539735_40539736insCTTGTCATCGTCGTCCTTGTAGTC	GRCh37
NC_000001.9:g.40312322_40312323insCTTGTCATCGTCGTCCTTGTAGTC	NCBI36
NG_009192.1:g.28407_28408insGACTACAAGGACGACGATGACAAG , LRG_690:g.28407_28408insGACTACAAGGACGACGATGACAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.915_916insGACTACAAGGACGACGATGACAAG	ENSP00000394863.4:p.Gly305_Ter306insAspTyrLysAspAspAspAspLys
ENST00000439754.6:c.846_847insGACTACAAGGACGACGATGACAAG	ENSP00000403207.2:p.Gly282_Ter283insAspTyrLysAspAspAspAspLys
ENST00000449045.7:c.609_610insGACTACAAGGACGACGATGACAAG	ENSP00000392293.2:p.Gly203_Ter204insAspTyrLysAspAspAspAspLys
ENST00000530076.6:c.261_262insGACTACAAGGACGACGATGACAAG	ENSP00000434007.1:p.Gly87_Ter88insAspTyrLysAspAspAspAspLys
ENST00000530704.6:c.*541_*542insGACTACAAGGACGACGATGACAAG	ENSP00000431655.1:n.*541_*542insGACTACAAGGACGACGATGACAAG
ENST00000641083.1:c.1008_1009insGACTACAAGGACGACGATGACAAG
ENST00000641236.1:n.1155_1156insGACTACAAGGACGACGATGACAAG
ENST00000641319.1:c.*128_*129insGACTACAAGGACGACGATGACAAG	ENSP00000493128.1:n.*128_*129insGACTACAAGGACGACGATGACAAG
ENST00000641381.1:c.340_341insGACTACAAGGACGACGATGACAAG
ENST00000641471.1:c.1005_1006insGACTACAAGGACGACGATGACAAG	ENSP00000493146.1:p.Gly335_Ter336insAspTyrLysAspAspAspAspLys
ENST00000641691.1:c.*770_*771insGACTACAAGGACGACGATGACAAG	ENSP00000492910.1:n.*770_*771insGACTACAAGGACGACGATGACAAG
ENST00000641924.1:c.*347_*348insGACTACAAGGACGACGATGACAAG	ENSP00000493063.1:n.*347_*348insGACTACAAGGACGACGATGACAAG
ENST00000642050.2:c.918_919insGACTACAAGGACGACGATGACAAG MANE Select	ENSP00000493153.1:p.Gly306_Ter307insAspTyrLysAspAspAspAspLys
ENST00000372775.2:n.315_316insGACTACAAGGACGACGATGACAAG
ENST00000433473.7:c.918_919insGACTACAAGGACGACGATGACAAG	ENSP00000394863.3:p.Gly306_Ter307insAspTyrLysAspAspAspAspLys
ENST00000439754.5:c.531_532insGACTACAAGGACGACGATGACAAG	ENSP00000403207.1:p.Gly177_Ter178insAspTyrLysAspAspAspAspLys
ENST00000449045.6:c.609_610insGACTACAAGGACGACGATGACAAG	ENSP00000392293.2:p.Gly203_Ter204insAspTyrLysAspAspAspAspLys
ENST00000529905.5:c.918_919insGACTACAAGGACGACGATGACAAG	ENSP00000432053.1:p.Gly306_Ter307insAspTyrLysAspAspAspAspLys
ENST00000530076.5:c.261_262insGACTACAAGGACGACGATGACAAG	ENSP00000434007.1:p.Gly87_Ter88insAspTyrLysAspAspAspAspLys
ENST00000530704.5:c.*541_*542insGACTACAAGGACGACGATGACAAG	ENSP00000431655.1:n.*541_*542insGACTACAAGGACGACGATGACAAG
NM_000310.3:c.918_919insGACTACAAGGACGACGATGACAAG , LRG_690t1:c.918_919insGACTACAAGGACGACGATGACAAG	NP_000301.1:p.Gly306_Ter307insAspTyrLysAspAspAspAspLys
NM_001142604.1:c.609_610insGACTACAAGGACGACGATGACAAG	NP_001136076.1:p.Gly203_Ter204insAspTyrLysAspAspAspAspLys
XM_005271008.1:c.846_847insGACTACAAGGACGACGATGACAAG	XP_005271065.1:p.Gly282_Ter283insAspTyrLysAspAspAspAspLys
NM_001363695.1:c.846_847insGACTACAAGGACGACGATGACAAG	NP_001350624.1:p.Gly282_Ter283insAspTyrLysAspAspAspAspLys
NM_000310.4:c.918_919insGACTACAAGGACGACGATGACAAG MANE Select	NP_000301.1:p.Gly306_Ter307insAspTyrLysAspAspAspAspLys
NM_001142604.2:c.609_610insGACTACAAGGACGACGATGACAAG	NP_001136076.1:p.Gly203_Ter204insAspTyrLysAspAspAspAspLys
NM_001363695.2:c.846_847insGACTACAAGGACGACGATGACAAG	NP_001350624.1:p.Gly282_Ter283insAspTyrLysAspAspAspAspLys