Canonical Allele Identifier: CA2743291778
Gene: PPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097449_40097450insAGA , CM000663.2:g.40097449_40097450insAGA GRCh38
NC_000001.10:g.40563121_40563122insAGA , CM000663.1:g.40563121_40563122insAGA GRCh37
NC_000001.9:g.40335708_40335709insAGA NCBI36
NG_009192.1:g.5021_5022insTCT , LRG_690:g.5021_5022insTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-212_-211insTCT ENSP00000394863.3:n.-212_-211insTCT
NM_000310.3:c.-212_-211insTCT , LRG_690t1:c.-212_-211insTCT NP_000301.1:n.-212_-211insTCT
NM_001142604.1:c.-212_-211insTCT NP_001136076.1:n.-212_-211insTCT
NM_001363695.1:c.-212_-211insTCT NP_001350624.1:n.-212_-211insTCT