Canonical Allele Identifier: CA2645093949

Gene: PPT1

Linked Data

• gnomAD v4: 1-40097427-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40097428del , CM000663.2:g.40097428del	GRCh38
NC_000001.10:g.40563100del , CM000663.1:g.40563100del	GRCh37
NC_000001.9:g.40335687del	NCBI36
NG_009192.1:g.5043del , LRG_690:g.5043del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.7:c.-190del	ENSP00000394863.3:n.-190del
NM_000310.3:c.-190del , LRG_690t1:c.-190del	NP_000301.1:n.-190del
NM_001142604.1:c.-190del	NP_001136076.1:n.-190del
NM_001363695.1:c.-190del	NP_001350624.1:n.-190del