Canonical Allele Identifier: CA682766057
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1168350992
gnomAD v4: 12-101830855-CGCTTCCG-C
MyVariant Identifiers: chr12:g.102224634_102224640del (hg19) chr12:g.101830856_101830862del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830857_101830863del , CM000674.2:g.101830857_101830863del GRCh38
NC_000012.11:g.102224635_102224641del , CM000674.1:g.102224635_102224641del GRCh37
NC_000012.10:g.100748766_100748772del NCBI36
NG_021243.1:g.5006_5012del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-187_-181del MANE Select ENSP00000299314.7:n.-187_-181del
ENST00000299314.11:c.-187_-181del ENSP00000299314.7:n.-187_-181del
NM_024312.4:c.-187_-181del NP_077288.2:n.-187_-181del
NM_024312.5:c.-187_-181del MANE Select NP_077288.2:n.-187_-181del
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Search 100 bp 3'