Canonical Allele Identifier: CA1164248638
Gene: PPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097288_40097289delinsCG , CM000663.2:g.40097288_40097289delinsCG GRCh38
NC_000001.10:g.40562960_40562961delinsCG , CM000663.1:g.40562960_40562961delinsCG GRCh37
NC_000001.9:g.40335547_40335548delinsCG NCBI36
NG_009192.1:g.5182_5183delinsCG , LRG_690:g.5182_5183delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-51_-50delinsCG ENSP00000394863.3:n.-51_-50delinsCG
NM_000310.3:c.-51_-50delinsCG , LRG_690t1:c.-51_-50delinsCG NP_000301.1:n.-51_-50delinsCG
NM_001142604.1:c.-51_-50delinsCG NP_001136076.1:n.-51_-50delinsCG
NM_001363695.1:c.-51_-50delinsCG NP_001350624.1:n.-51_-50delinsCG