Canonical Allele Identifier: CA2645093792

Gene: PPT1

Linked Data

• gnomAD v4: 1-40097248-GTCACA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40097250_40097254del , CM000663.2:g.40097250_40097254del	GRCh38
NC_000001.10:g.40562922_40562926del , CM000663.1:g.40562922_40562926del	GRCh37
NC_000001.9:g.40335509_40335513del	NCBI36
NG_009192.1:g.5218_5222del , LRG_690:g.5218_5222del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449045.7:c.-15_-11del	ENSP00000392293.2:n.-15_-11del
ENST00000641319.1:c.-15_-11del	ENSP00000493128.1:n.-15_-11del
ENST00000641691.1:c.-15_-11del	ENSP00000492910.1:n.-15_-11del
ENST00000433473.7:c.-15_-11del	ENSP00000394863.3:n.-15_-11del
NM_000310.3:c.-15_-11del , LRG_690t1:c.-15_-11del	NP_000301.1:n.-15_-11del
NM_001142604.1:c.-15_-11del	NP_001136076.1:n.-15_-11del
XM_005271008.1:c.-15_-11del	XP_005271065.1:n.-15_-11del
NM_001363695.1:c.-15_-11del	NP_001350624.1:n.-15_-11del