Canonical Allele Identifier: CA242320105
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs983278016
gnomAD v3: 12-101830907-GGCCGGCGAGGCGGCCGGC-G
gnomAD v4: 12-101830907-GGCCGGCGAGGCGGCCGGC-G
MyVariant Identifiers: chr12:g.102224686_102224703del (hg19) chr12:g.101830908_101830925del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830912_101830929del , CM000674.2:g.101830912_101830929del GRCh38
NC_000012.11:g.102224690_102224707del , CM000674.1:g.102224690_102224707del GRCh37
NC_000012.10:g.100748821_100748838del NCBI36
NG_021243.1:g.4943_4960del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-250_-233del MANE Select ENSP00000299314.7:n.-250_-233del
ENST00000299314.11:c.-250_-233del ENSP00000299314.7:n.-250_-233del
NM_024312.5:c.-250_-233del MANE Select NP_077288.2:n.-250_-233del
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