Canonical Allele Identifier: CA2620450651
Gene: GNPTAB HGNC NCBI

Linked Data

gnomAD v4: 12-101830792-CTCCGGGCGCCGCTCATTGCAGCTCCGGCGACGGACGCCCGCTCGGCTCCGCGCCGCGGCCGCCGCT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830799_101830864del , CM000674.2:g.101830799_101830864del GRCh38
NC_000012.11:g.102224577_102224642del , CM000674.1:g.102224577_102224642del GRCh37
NC_000012.10:g.100748708_100748773del NCBI36
NG_021243.1:g.5010_5075del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-183_-118del MANE Select ENSP00000299314.7:n.-183_-118del
ENST00000299314.11:c.-183_-118del ENSP00000299314.7:n.-183_-118del
NM_024312.4:c.-183_-118del NP_077288.2:n.-183_-118del
NM_024312.5:c.-183_-118del MANE Select NP_077288.2:n.-183_-118del
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