Canonical Allele Identifier: CA2739272472

Gene: PPT1

Linked Data

• ClinVar Variation Id: 2871091
• ClinVar RCV Id: RCV003619286

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091314_40091315del , CM000663.2:g.40091314_40091315del	GRCh38
NC_000001.10:g.40556986_40556987del , CM000663.1:g.40556986_40556987del	GRCh37
NC_000001.9:g.40329573_40329574del	NCBI36
NG_009192.1:g.11157_11158del , LRG_690:g.11157_11158del

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*269+15_*269+16del	ENSP00000361865.5:n.*269+15_*269+16del
ENST00000433473.8:c.430+15_430+16del	ENSP00000394863.4:n.430+15_430+16del
ENST00000439754.6:c.433+15_433+16del	ENSP00000403207.2:n.433+15_433+16del
ENST00000449045.7:c.125-1802_125-1801del	ENSP00000392293.2:n.125-1802_125-1801del
ENST00000526547.2:c.713+15_713+16del
ENST00000527311.7:c.305+15_305+16del	ENSP00000436695.3:n.305+15_305+16del
ENST00000530704.6:c.433+15_433+16del	ENSP00000431655.1:n.433+15_433+16del
ENST00000641083.1:c.411+15_411+16del
ENST00000641236.1:n.670+15_670+16del
ENST00000641319.1:c.433+15_433+16del	ENSP00000493128.1:n.433+15_433+16del
ENST00000641381.1:c.45+15_45+16del
ENST00000641471.1:c.520+15_520+16del	ENSP00000493146.1:n.520+15_520+16del
ENST00000641548.1:c.*285+15_*285+16del	ENSP00000492984.1:n.*285+15_*285+16del
ENST00000641691.1:c.*285+15_*285+16del	ENSP00000492910.1:n.*285+15_*285+16del
ENST00000641924.1:c.124+5801_124+5802del	ENSP00000493063.1:n.124+5801_124+5802del
ENST00000642050.2:c.433+15_433+16del MANE Select	ENSP00000493153.1:n.433+15_433+16del
ENST00000372779.8:c.520+15_520+16del	ENSP00000361865.4:n.520+15_520+16del
ENST00000433473.7:c.433+15_433+16del	ENSP00000394863.3:n.433+15_433+16del
ENST00000439754.5:c.118+15_118+16del	ENSP00000403207.1:n.118+15_118+16del
ENST00000449045.6:c.125-1802_125-1801del	ENSP00000392293.2:n.125-1802_125-1801del
ENST00000526547.1:c.283+15_283+16del	ENSP00000436481.1:n.283+15_283+16del
ENST00000527311.6:c.208+15_208+16del	ENSP00000436695.2:n.208+15_208+16del
ENST00000529905.5:c.433+15_433+16del	ENSP00000432053.1:n.433+15_433+16del
ENST00000530704.5:c.433+15_433+16del	ENSP00000431655.1:n.433+15_433+16del
NM_000310.3:c.433+15_433+16del , LRG_690t1:c.433+15_433+16del	NP_000301.1:n.433+15_433+16del
NM_001142604.1:c.125-1802_125-1801del	NP_001136076.1:n.125-1802_125-1801del
XM_005271008.1:c.433+15_433+16del	XP_005271065.1:n.433+15_433+16del
NM_001363695.1:c.433+15_433+16del	NP_001350624.1:n.433+15_433+16del
NM_000310.4:c.433+15_433+16del MANE Select	NP_000301.1:n.433+15_433+16del
NM_001142604.2:c.125-1802_125-1801del	NP_001136076.1:n.125-1802_125-1801del
NM_001363695.2:c.433+15_433+16del	NP_001350624.1:n.433+15_433+16del