Canonical Allele Identifier: CA2528360665

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092400_40092401insA , CM000663.2:g.40092400_40092401insA	GRCh38
NC_000001.10:g.40558072_40558073insA , CM000663.1:g.40558072_40558073insA	GRCh37
NC_000001.9:g.40330659_40330660insA	NCBI36
NG_009192.1:g.10070_10071insT , LRG_690:g.10070_10071insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*67_*68insT	ENSP00000361865.5:n.*67_*68insT
ENST00000433473.8:c.228_229insT	ENSP00000394863.4:p.Glu77Ter
ENST00000439754.6:c.231_232insT	ENSP00000403207.2:p.Glu78Ter
ENST00000449045.7:c.125-2889_125-2888insT	ENSP00000392293.2:n.125-2889_125-2888insT
ENST00000526547.2:c.511_512insT
ENST00000527311.7:c.231_232insT	ENSP00000436695.3:p.Glu78Ter
ENST00000530704.6:c.231_232insT	ENSP00000431655.1:p.Glu78Ter
ENST00000641083.1:c.209_210insT
ENST00000641236.1:n.243_244insT
ENST00000641319.1:c.231_232insT	ENSP00000493128.1:p.Glu78Ter
ENST00000641471.1:c.318_319insT	ENSP00000493146.1:p.Glu107Ter
ENST00000641548.1:c.*83_*84insT	ENSP00000492984.1:n.*83_*84insT
ENST00000641691.1:c.*83_*84insT	ENSP00000492910.1:n.*83_*84insT
ENST00000641924.1:c.124+4714_124+4715insT	ENSP00000493063.1:n.124+4714_124+4715insT
ENST00000642050.2:c.231_232insT MANE Select	ENSP00000493153.1:p.Glu78Ter
ENST00000372779.8:c.318_319insT	ENSP00000361865.4:p.Glu107Ter
ENST00000433473.7:c.231_232insT	ENSP00000394863.3:p.Glu78Ter
ENST00000449045.6:c.125-2889_125-2888insT	ENSP00000392293.2:n.125-2889_125-2888insT
ENST00000526547.1:c.81_82insT	ENSP00000436481.1:p.Glu28Ter
ENST00000527311.6:c.125-344_125-343insT	ENSP00000436695.2:n.125-344_125-343insT
ENST00000529905.5:c.231_232insT	ENSP00000432053.1:p.Glu78Ter
ENST00000530704.5:c.231_232insT	ENSP00000431655.1:p.Glu78Ter
NM_000310.3:c.231_232insT , LRG_690t1:c.231_232insT	NP_000301.1:p.Glu78Ter
NM_001142604.1:c.125-2889_125-2888insT	NP_001136076.1:n.125-2889_125-2888insT
XM_005271008.1:c.231_232insT	XP_005271065.1:p.Glu78Ter
NM_001363695.1:c.231_232insT	NP_001350624.1:p.Glu78Ter
NM_000310.4:c.231_232insT MANE Select	NP_000301.1:p.Glu78Ter
NM_001142604.2:c.125-2889_125-2888insT	NP_001136076.1:n.125-2889_125-2888insT
NM_001363695.2:c.231_232insT	NP_001350624.1:p.Glu78Ter