Canonical Allele Identifier: CA2620450921
Gene: GNPTAB HGNC NCBI

Linked Data

gnomAD v4: 12-101830853-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830855del , CM000674.2:g.101830855del GRCh38
NC_000012.11:g.102224633del , CM000674.1:g.102224633del GRCh37
NC_000012.10:g.100748764del NCBI36
NG_021243.1:g.5014del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-179del MANE Select ENSP00000299314.7:n.-179del
ENST00000299314.11:c.-179del ENSP00000299314.7:n.-179del
NM_024312.4:c.-179del NP_077288.2:n.-179del
XM_006719593.2:c.-179del XP_006719656.1:n.-179del
NM_024312.5:c.-179del MANE Select NP_077288.2:n.-179del
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