Canonical Allele Identifier: CA919160031
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1555277164

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830908_101830909insACGGCGAGGCGG , CM000674.2:g.101830908_101830909insACGGCGAGGCGG GRCh38
NC_000012.11:g.102224686_102224687insACGGCGAGGCGG , CM000674.1:g.102224686_102224687insACGGCGAGGCGG GRCh37
NC_000012.10:g.100748817_100748818insACGGCGAGGCGG NCBI36
NG_021243.1:g.4963_4964insCTCGCCGTCCGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-230_-229insCTCGCCGTCCGC MANE Select ENSP00000299314.7:n.-230_-229insCTCGCCGTCCGC
ENST00000299314.11:c.-230_-229insCTCGCCGTCCGC ENSP00000299314.7:n.-230_-229insCTCGCCGTCCGC
NM_024312.5:c.-230_-229insCTCGCCGTCCGC MANE Select NP_077288.2:n.-230_-229insCTCGCCGTCCGC