Canonical Allele Identifier: CA2645093872

Gene: PPT1

Linked Data

• gnomAD v4: 1-40097353-CCTGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40097354_40097357del , CM000663.2:g.40097354_40097357del	GRCh38
NC_000001.10:g.40563026_40563029del , CM000663.1:g.40563026_40563029del	GRCh37
NC_000001.9:g.40335613_40335616del	NCBI36
NG_009192.1:g.5114_5117del , LRG_690:g.5114_5117del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.7:c.-119_-116del	ENSP00000394863.3:n.-119_-116del
NM_000310.3:c.-119_-116del , LRG_690t1:c.-119_-116del	NP_000301.1:n.-119_-116del
NM_001142604.1:c.-119_-116del	NP_001136076.1:n.-119_-116del
NM_001363695.1:c.-119_-116del	NP_001350624.1:n.-119_-116del