Canonical Allele Identifier: CA607383744
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1483502042
gnomAD v2: 12-102224671-GGAGGCGGACCTGCGGCCGGC-G
gnomAD v3: 12-101830893-GGAGGCGGACCTGCGGCCGGC-G
gnomAD v4: 12-101830893-GGAGGCGGACCTGCGGCCGGC-G
MyVariant Identifiers: chr12:g.102224672_102224691del (hg19) chr12:g.101830894_101830913del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830901_101830920del , CM000674.2:g.101830901_101830920del GRCh38
NC_000012.11:g.102224679_102224698del , CM000674.1:g.102224679_102224698del GRCh37
NC_000012.10:g.100748810_100748829del NCBI36
NG_021243.1:g.4955_4974del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-238_-219del MANE Select ENSP00000299314.7:n.-238_-219del
ENST00000299314.11:c.-238_-219del ENSP00000299314.7:n.-238_-219del
NM_024312.5:c.-238_-219del MANE Select NP_077288.2:n.-238_-219del
Search 100 bp 5'
Search 100 bp 3'