Canonical Allele Identifier: CA2743291770

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40097359_40097368del , CM000663.2:g.40097359_40097368del	GRCh38
NC_000001.10:g.40563031_40563040del , CM000663.1:g.40563031_40563040del	GRCh37
NC_000001.9:g.40335618_40335627del	NCBI36
NG_009192.1:g.5103_5112del , LRG_690:g.5103_5112del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.7:c.-130_-121del	ENSP00000394863.3:n.-130_-121del
NM_000310.3:c.-130_-121del , LRG_690t1:c.-130_-121del	NP_000301.1:n.-130_-121del
NM_001142604.1:c.-130_-121del	NP_001136076.1:n.-130_-121del
NM_001363695.1:c.-130_-121del	NP_001350624.1:n.-130_-121del