Canonical Allele Identifier: CA2743291768

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40097353_40097356del , CM000663.2:g.40097353_40097356del	GRCh38
NC_000001.10:g.40563025_40563028del , CM000663.1:g.40563025_40563028del	GRCh37
NC_000001.9:g.40335612_40335615del	NCBI36
NG_009192.1:g.5116_5119del , LRG_690:g.5116_5119del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.7:c.-117_-114del	ENSP00000394863.3:n.-117_-114del
NM_000310.3:c.-117_-114del , LRG_690t1:c.-117_-114del	NP_000301.1:n.-117_-114del
NM_001142604.1:c.-117_-114del	NP_001136076.1:n.-117_-114del
NM_001363695.1:c.-117_-114del	NP_001350624.1:n.-117_-114del