Canonical Allele Identifier: CA2645093660

Gene: PPT1

Linked Data

• gnomAD v4: 1-40097070-AAGAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40097076_40097079del , CM000663.2:g.40097076_40097079del	GRCh38
NC_000001.10:g.40562748_40562751del , CM000663.1:g.40562748_40562751del	GRCh37
NC_000001.9:g.40335335_40335338del	NCBI36
NG_009192.1:g.5397_5400del , LRG_690:g.5397_5400del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.128+37_128+40del	ENSP00000361865.5:n.128+37_128+40del
ENST00000433473.8:c.124+41_124+44del	ENSP00000394863.4:n.124+41_124+44del
ENST00000439754.6:c.124+41_124+44del	ENSP00000403207.2:n.124+41_124+44del
ENST00000449045.7:c.124+41_124+44del	ENSP00000392293.2:n.124+41_124+44del
ENST00000526547.2:c.139_142del
ENST00000527311.7:c.124+41_124+44del	ENSP00000436695.3:n.124+41_124+44del
ENST00000530704.6:c.124+41_124+44del	ENSP00000431655.1:n.124+41_124+44del
ENST00000641083.1:c.102+41_102+44del
ENST00000641236.1:n.136+41_136+44del
ENST00000641319.1:c.124+41_124+44del	ENSP00000493128.1:n.124+41_124+44del
ENST00000641471.1:c.124+41_124+44del	ENSP00000493146.1:n.124+41_124+44del
ENST00000641548.1:c.124+41_124+44del	ENSP00000492984.1:n.124+41_124+44del
ENST00000641691.1:c.124+41_124+44del	ENSP00000492910.1:n.124+41_124+44del
ENST00000641924.1:c.124+41_124+44del	ENSP00000493063.1:n.124+41_124+44del
ENST00000642050.2:c.124+41_124+44del MANE Select	ENSP00000493153.1:n.124+41_124+44del
ENST00000372779.8:c.124+41_124+44del	ENSP00000361865.4:n.124+41_124+44del
ENST00000433473.7:c.124+41_124+44del	ENSP00000394863.3:n.124+41_124+44del
ENST00000449045.6:c.124+41_124+44del	ENSP00000392293.2:n.124+41_124+44del
ENST00000527311.6:c.124+41_124+44del	ENSP00000436695.2:n.124+41_124+44del
ENST00000529905.5:c.124+41_124+44del	ENSP00000432053.1:n.124+41_124+44del
ENST00000530704.5:c.124+41_124+44del	ENSP00000431655.1:n.124+41_124+44del
NM_000310.3:c.124+41_124+44del , LRG_690t1:c.124+41_124+44del	NP_000301.1:n.124+41_124+44del
NM_001142604.1:c.124+41_124+44del	NP_001136076.1:n.124+41_124+44del
XM_005271008.1:c.124+41_124+44del	XP_005271065.1:n.124+41_124+44del
NM_001363695.1:c.124+41_124+44del	NP_001350624.1:n.124+41_124+44del
NM_000310.4:c.124+41_124+44del MANE Select	NP_000301.1:n.124+41_124+44del
NM_001142604.2:c.124+41_124+44del	NP_001136076.1:n.124+41_124+44del
NM_001363695.2:c.124+41_124+44del	NP_001350624.1:n.124+41_124+44del