Canonical Allele Identifier: CA2645093864

Gene: PPT1

Linked Data

• gnomAD v4: 1-40097349-C-CCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40097351_40097352insTCA , CM000663.2:g.40097351_40097352insTCA	GRCh38
NC_000001.10:g.40563023_40563024insTCA , CM000663.1:g.40563023_40563024insTCA	GRCh37
NC_000001.9:g.40335610_40335611insTCA	NCBI36
NG_009192.1:g.5121_5122insATG , LRG_690:g.5121_5122insATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.7:c.-112_-111insATG	ENSP00000394863.3:n.-112_-111insATG
NM_000310.3:c.-112_-111insATG , LRG_690t1:c.-112_-111insATG	NP_000301.1:n.-112_-111insATG
NM_001142604.1:c.-112_-111insATG	NP_001136076.1:n.-112_-111insATG
NM_001363695.1:c.-112_-111insATG	NP_001350624.1:n.-112_-111insATG