Canonical Allele Identifier: CA2586966432

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080423_40080425dup , CM000663.2:g.40080423_40080425dup	GRCh38
NC_000001.10:g.40546095_40546097dup , CM000663.1:g.40546095_40546097dup	GRCh37
NC_000001.9:g.40318682_40318684dup	NCBI36
NG_009192.1:g.22050_22052dup , LRG_690:g.22050_22052dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.600_602dup	ENSP00000394863.4:p.Phe200_Leu201insPhe
ENST00000439754.6:c.603_605dup	ENSP00000403207.2:p.Phe201_Leu202insPhe
ENST00000449045.7:c.294_296dup	ENSP00000392293.2:p.Phe98_Leu99insPhe
ENST00000527311.7:c.372_374dup	ENSP00000436695.3:p.Phe124_Leu125insPhe
ENST00000530076.6:c.-55_-53dup	ENSP00000434007.1:n.-55_-53dup
ENST00000530704.6:c.*226_*228dup	ENSP00000431655.1:n.*226_*228dup
ENST00000641083.1:c.581_583dup
ENST00000641236.1:n.840_842dup
ENST00000641319.1:c.603_605dup	ENSP00000493128.1:p.Phe201_Leu202insPhe
ENST00000641381.1:c.149-3508_149-3506dup
ENST00000641471.1:c.690_692dup	ENSP00000493146.1:p.Phe230_Leu231insPhe
ENST00000641691.1:c.*455_*457dup	ENSP00000492910.1:n.*455_*457dup
ENST00000641924.1:c.*32_*34dup	ENSP00000493063.1:n.*32_*34dup
ENST00000642050.2:c.603_605dup MANE Select	ENSP00000493153.1:p.Phe201_Leu202insPhe
ENST00000372779.8:c.690_692dup	ENSP00000361865.4:p.Phe230_Leu231insPhe
ENST00000433473.7:c.603_605dup	ENSP00000394863.3:p.Phe201_Leu202insPhe
ENST00000439754.5:c.288_290dup	ENSP00000403207.1:p.Phe96_Leu97insPhe
ENST00000449045.6:c.294_296dup	ENSP00000392293.2:p.Phe98_Leu99insPhe
ENST00000527311.6:c.378_380dup	ENSP00000436695.2:p.Phe126_Leu127insPhe
ENST00000529905.5:c.603_605dup	ENSP00000432053.1:p.Phe201_Leu202insPhe
ENST00000530076.5:c.-55_-53dup	ENSP00000434007.1:n.-55_-53dup
ENST00000530704.5:c.*226_*228dup	ENSP00000431655.1:n.*226_*228dup
NM_000310.3:c.603_605dup , LRG_690t1:c.603_605dup	NP_000301.1:p.Phe201_Leu202insPhe
NM_001142604.1:c.294_296dup	NP_001136076.1:p.Phe98_Leu99insPhe
XM_005271008.1:c.603_605dup	XP_005271065.1:p.Phe201_Leu202insPhe
NM_001363695.1:c.603_605dup	NP_001350624.1:p.Phe201_Leu202insPhe
NM_000310.4:c.603_605dup MANE Select	NP_000301.1:p.Phe201_Leu202insPhe
NM_001142604.2:c.294_296dup	NP_001136076.1:p.Phe98_Leu99insPhe
NM_001363695.2:c.603_605dup	NP_001350624.1:p.Phe201_Leu202insPhe