Canonical Allele Identifier: CA6747015

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 1416350
• ClinVar RCV Id: RCV001935666 ; RCV003984865
• dbSNP Id: rs753382639
• ExAC: 12:102224364 GGT / G
• gnomAD v2: 12-102224364-GGT-G
• gnomAD v4: 12-101830586-GGT-G
• MyVariant Identifiers: chr12:g.102224365_102224366del (hg19) ; chr12:g.101830587_101830588del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830588_101830589del , CM000674.2:g.101830588_101830589del	GRCh38
NC_000012.11:g.102224366_102224367del , CM000674.1:g.102224366_102224367del	GRCh37
NC_000012.10:g.100748497_100748498del	NCBI36
NG_021243.1:g.5280_5281del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.88_89del MANE Select	ENSP00000299314.7:p.Thr30HisfsTer24
ENST00000647144.1:n.76_77del
ENST00000299314.11:c.88_89del	ENSP00000299314.7:p.Thr30HisfsTer24
ENST00000392919.4:c.88_89del	ENSP00000376651.4:p.Thr30HisfsTer24
ENST00000549165.1:c.88_89del	ENSP00000450413.1:p.Thr30HisfsTer24
ENST00000549940.5:c.88_89del	ENSP00000449150.1:p.Thr30HisfsTer24
NM_024312.4:c.88_89del	NP_077288.2:p.Thr30HisfsTer24
XM_006719593.2:c.88_89del	XP_006719656.1:p.Thr30HisfsTer24
XM_006719593.3:c.88_89del	XP_006719656.1:p.Thr30HisfsTer24
XM_017019961.1:c.-100+38_-100+39del	XP_016875450.1:n.-100+38_-100+39del
XM_017019962.2:c.-1263_-1262del	XP_016875451.1:n.-1263_-1262del
NM_024312.5:c.88_89del MANE Select	NP_077288.2:p.Thr30HisfsTer24