Canonical Allele Identifier: CA2743276037

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40073977_40073978del , CM000663.2:g.40073977_40073978del	GRCh38
NC_000001.10:g.40539649_40539650del , CM000663.1:g.40539649_40539650del	GRCh37
NC_000001.9:g.40312236_40312237del	NCBI36
NG_009192.1:g.28493_28494del , LRG_690:g.28493_28494del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.*83_*84del	ENSP00000394863.4:n.*83_*84del
ENST00000439754.6:c.*83_*84del	ENSP00000403207.2:n.*83_*84del
ENST00000449045.7:c.*83_*84del	ENSP00000392293.2:n.*83_*84del
ENST00000530076.6:c.*83_*84del	ENSP00000434007.1:n.*83_*84del
ENST00000530704.6:c.*627_*628del	ENSP00000431655.1:n.*627_*628del
ENST00000641083.1:c.1094_1095del
ENST00000641236.1:n.1241_1242del
ENST00000641319.1:c.*214_*215del	ENSP00000493128.1:n.*214_*215del
ENST00000641381.1:c.426_427del
ENST00000641471.1:c.*83_*84del	ENSP00000493146.1:n.*83_*84del
ENST00000641691.1:c.*856_*857del	ENSP00000492910.1:n.*856_*857del
ENST00000642050.2:c.*83_*84del MANE Select	ENSP00000493153.1:n.*83_*84del
ENST00000372775.2:n.401_402del
ENST00000433473.7:c.*83_*84del	ENSP00000394863.3:n.*83_*84del
ENST00000439754.5:c.617_618del	ENSP00000403207.1:n.617_618del
ENST00000449045.6:c.*83_*84del	ENSP00000392293.2:n.*83_*84del
ENST00000529905.5:c.*83_*84del	ENSP00000432053.1:n.*83_*84del
ENST00000530704.5:c.*627_*628del	ENSP00000431655.1:n.*627_*628del
NM_000310.3:c.*83_*84del , LRG_690t1:c.*83_*84del	NP_000301.1:n.*83_*84del
NM_001142604.1:c.*83_*84del	NP_001136076.1:n.*83_*84del
XM_005271008.1:c.*83_*84del	XP_005271065.1:n.*83_*84del
NM_001363695.1:c.*83_*84del	NP_001350624.1:n.*83_*84del
NM_000310.4:c.*83_*84del MANE Select	NP_000301.1:n.*83_*84del
NM_001142604.2:c.*83_*84del	NP_001136076.1:n.*83_*84del
NM_001363695.2:c.*83_*84del	NP_001350624.1:n.*83_*84del