Canonical Allele Identifier: CA2645092820

Gene: PPT1

Linked Data

• gnomAD v4: 1-40092329-GCATT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092330_40092333del , CM000663.2:g.40092330_40092333del	GRCh38
NC_000001.10:g.40558002_40558005del , CM000663.1:g.40558002_40558005del	GRCh37
NC_000001.9:g.40330589_40330592del	NCBI36
NG_009192.1:g.10138_10141del , LRG_690:g.10138_10141del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*70+65_*70+68del	ENSP00000361865.5:n.*70+65_*70+68del
ENST00000433473.8:c.231+65_231+68del	ENSP00000394863.4:n.231+65_231+68del
ENST00000439754.6:c.234+65_234+68del	ENSP00000403207.2:n.234+65_234+68del
ENST00000449045.7:c.125-2821_125-2818del	ENSP00000392293.2:n.125-2821_125-2818del
ENST00000526547.2:c.514+65_514+68del
ENST00000527311.7:c.234+65_234+68del	ENSP00000436695.3:n.234+65_234+68del
ENST00000530704.6:c.234+65_234+68del	ENSP00000431655.1:n.234+65_234+68del
ENST00000641083.1:c.212+65_212+68del
ENST00000641236.1:n.311_314del
ENST00000641319.1:c.234+65_234+68del	ENSP00000493128.1:n.234+65_234+68del
ENST00000641471.1:c.321+65_321+68del	ENSP00000493146.1:n.321+65_321+68del
ENST00000641548.1:c.*86+65_*86+68del	ENSP00000492984.1:n.*86+65_*86+68del
ENST00000641691.1:c.*86+65_*86+68del	ENSP00000492910.1:n.*86+65_*86+68del
ENST00000641924.1:c.124+4782_124+4785del	ENSP00000493063.1:n.124+4782_124+4785del
ENST00000642050.2:c.234+65_234+68del MANE Select	ENSP00000493153.1:n.234+65_234+68del
ENST00000372779.8:c.321+65_321+68del	ENSP00000361865.4:n.321+65_321+68del
ENST00000433473.7:c.234+65_234+68del	ENSP00000394863.3:n.234+65_234+68del
ENST00000449045.6:c.125-2821_125-2818del	ENSP00000392293.2:n.125-2821_125-2818del
ENST00000526547.1:c.84+65_84+68del	ENSP00000436481.1:n.84+65_84+68del
ENST00000527311.6:c.125-276_125-273del	ENSP00000436695.2:n.125-276_125-273del
ENST00000529905.5:c.234+65_234+68del	ENSP00000432053.1:n.234+65_234+68del
ENST00000530704.5:c.234+65_234+68del	ENSP00000431655.1:n.234+65_234+68del
NM_000310.3:c.234+65_234+68del , LRG_690t1:c.234+65_234+68del	NP_000301.1:n.234+65_234+68del
NM_001142604.1:c.125-2821_125-2818del	NP_001136076.1:n.125-2821_125-2818del
XM_005271008.1:c.234+65_234+68del	XP_005271065.1:n.234+65_234+68del
NM_001363695.1:c.234+65_234+68del	NP_001350624.1:n.234+65_234+68del
NM_000310.4:c.234+65_234+68del MANE Select	NP_000301.1:n.234+65_234+68del
NM_001142604.2:c.125-2821_125-2818del	NP_001136076.1:n.125-2821_125-2818del
NM_001363695.2:c.234+65_234+68del	NP_001350624.1:n.234+65_234+68del