Canonical Allele Identifier: CA1164245543

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078641_40078642delinsGT , CM000663.2:g.40078641_40078642delinsGT	GRCh38
NC_000001.10:g.40544313_40544314delinsGT , CM000663.1:g.40544313_40544314delinsGT	GRCh37
NC_000001.9:g.40316900_40316901delinsGT	NCBI36
NG_009192.1:g.23829_23830delinsAC , LRG_690:g.23829_23830delinsAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000433473.8:c.641_642delinsAC	ENSP00000394863.4:p.Tyr214=
ENST00000439754.6:c.644_645delinsAC	ENSP00000403207.2:p.Tyr215=
ENST00000449045.7:c.335_336delinsAC	ENSP00000392293.2:p.Tyr112=
ENST00000527311.7:c.413_414delinsAC	ENSP00000436695.3:p.Tyr138=
ENST00000530076.6:c.-14_-13delinsAC	ENSP00000434007.1:n.-14_-13delinsAC
ENST00000530704.6:c.*267_*268delinsAC	ENSP00000431655.1:n.*267_*268delinsAC
ENST00000641083.1:c.622_623delinsAC
ENST00000641236.1:n.881_882delinsAC
ENST00000641319.1:c.644_645delinsAC	ENSP00000493128.1:p.Tyr215=
ENST00000641381.1:c.149-1729_149-1728delinsAC
ENST00000641471.1:c.731_732delinsAC	ENSP00000493146.1:p.Tyr244=
ENST00000641691.1:c.*496_*497delinsAC	ENSP00000492910.1:n.*496_*497delinsAC
ENST00000641924.1:c.*73_*74delinsAC	ENSP00000493063.1:n.*73_*74delinsAC
ENST00000642050.2:c.644_645delinsAC MANE Select	ENSP00000493153.1:p.Tyr215=
ENST00000372775.2:n.41_42delinsAC
ENST00000372779.8:c.731_732delinsAC	ENSP00000361865.4:p.Tyr244=
ENST00000433473.7:c.644_645delinsAC	ENSP00000394863.3:p.Tyr215=
ENST00000439754.5:c.329_330delinsAC	ENSP00000403207.1:p.Tyr110=
ENST00000449045.6:c.335_336delinsAC	ENSP00000392293.2:p.Tyr112=
ENST00000527311.6:c.419_420delinsAC	ENSP00000436695.2:p.Tyr140=
ENST00000529905.5:c.644_645delinsAC	ENSP00000432053.1:p.Tyr215=
ENST00000530076.5:c.-14_-13delinsAC	ENSP00000434007.1:n.-14_-13delinsAC
ENST00000530704.5:c.*267_*268delinsAC	ENSP00000431655.1:n.*267_*268delinsAC
NM_000310.3:c.644_645delinsAC , LRG_690t1:c.644_645delinsAC	NP_000301.1:p.Tyr215=
NM_001142604.1:c.335_336delinsAC	NP_001136076.1:p.Tyr112=
XM_005271008.1:c.644_645delinsAC	XP_005271065.1:p.Tyr215=
NM_001363695.1:c.644_645delinsAC	NP_001350624.1:p.Tyr215=
NM_000310.4:c.644_645delinsAC MANE Select	NP_000301.1:p.Tyr215=
NM_001142604.2:c.335_336delinsAC	NP_001136076.1:p.Tyr112=
NM_001363695.2:c.644_645delinsAC	NP_001350624.1:p.Tyr215=