Canonical Allele Identifier: CA607597859

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 2922853
• ClinVar RCV Id: RCV003788019
• dbSNP Id: rs766795000
• gnomAD v2: 12-102163987-C-CA
• gnomAD v3: 12-101770209-C-CA
• gnomAD v4: 12-101770209-C-CA
• MyVariant Identifiers: chr12:g.102163987_102163988insA (hg19) ; chr12:g.101770209_101770210insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770216dup , CM000674.2:g.101770216dup	GRCh38
NC_000012.11:g.102163994dup , CM000674.1:g.102163994dup	GRCh37
NC_000012.10:g.100688125dup	NCBI36
NG_021243.1:g.65658dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1114-19dup MANE Select	ENSP00000299314.7:n.1114-19dup
ENST00000299314.11:c.1114-19dup	ENSP00000299314.7:n.1114-19dup
ENST00000549940.5:c.1114-19dup	ENSP00000449150.1:n.1114-19dup
NM_024312.4:c.1114-19dup	NP_077288.2:n.1114-19dup
XM_006719593.2:c.1114-19dup	XP_006719656.1:n.1114-19dup
XM_011538731.1:c.1033-19dup	XP_011537033.1:n.1033-19dup
XM_006719593.3:c.1114-19dup	XP_006719656.1:n.1114-19dup
XM_011538731.2:c.1033-19dup	XP_011537033.1:n.1033-19dup
XM_017019961.1:c.898-19dup	XP_016875450.1:n.898-19dup
XM_017019962.2:c.-114-19dup	XP_016875451.1:n.-114-19dup
NM_024312.5:c.1114-19dup MANE Select	NP_077288.2:n.1114-19dup