Canonical Allele Identifier: CA242461318

Gene: GNPTAB

Linked Data

• dbSNP Id: rs144571315
• gnomAD v2: 12-102161995-CTTGAG-C
• gnomAD v3: 12-101768217-CTTGAG-C
• gnomAD v4: 12-101768217-CTTGAG-C
• MyVariant Identifiers: chr12:g.102161996_102162000del (hg19) ; chr12:g.101768218_101768222del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768220_101768224del , CM000674.2:g.101768220_101768224del	GRCh38
NC_000012.11:g.102161998_102162002del , CM000674.1:g.102161998_102162002del	GRCh37
NC_000012.10:g.100686129_100686133del	NCBI36
NG_021243.1:g.67646_67650del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1285-62_1285-58del MANE Select	ENSP00000299314.7:n.1285-62_1285-58del
ENST00000299314.11:c.1285-62_1285-58del	ENSP00000299314.7:n.1285-62_1285-58del
ENST00000549940.5:c.1285-62_1285-58del	ENSP00000449150.1:n.1285-62_1285-58del
NM_024312.4:c.1285-62_1285-58del	NP_077288.2:n.1285-62_1285-58del
XM_006719593.2:c.1285-62_1285-58del	XP_006719656.1:n.1285-62_1285-58del
XM_011538731.1:c.1204-62_1204-58del	XP_011537033.1:n.1204-62_1204-58del
XM_006719593.3:c.1285-62_1285-58del	XP_006719656.1:n.1285-62_1285-58del
XM_011538731.2:c.1204-62_1204-58del	XP_011537033.1:n.1204-62_1204-58del
XM_017019961.1:c.1069-62_1069-58del	XP_016875450.1:n.1069-62_1069-58del
XM_017019962.2:c.58-62_58-58del	XP_016875451.1:n.58-62_58-58del
NM_024312.5:c.1285-62_1285-58del MANE Select	NP_077288.2:n.1285-62_1285-58del