Canonical Allele Identifier: CA242320110
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1015191818
gnomAD v3: 12-101830913-CGAGGCGGCCGGCGCCGCCCGGGTCTGGCCGGGCGA-C
gnomAD v4: 12-101830913-CGAGGCGGCCGGCGCCGCCCGGGTCTGGCCGGGCGA-C
MyVariant Identifiers: chr12:g.102224692_102224726del (hg19) chr12:g.101830914_101830948del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830922_101830956del , CM000674.2:g.101830922_101830956del GRCh38
NC_000012.11:g.102224700_102224734del , CM000674.1:g.102224700_102224734del GRCh37
NC_000012.10:g.100748831_100748865del NCBI36
NG_021243.1:g.4920_4954del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-273_-239del MANE Select ENSP00000299314.7:n.-273_-239del
NM_024312.5:c.-273_-239del MANE Select NP_077288.2:n.-273_-239del
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