Canonical Allele Identifier: CA2499221396

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 1169380
• ClinVar RCV Id: RCV001520520
• dbSNP Id: rs2137124351

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770595dup , CM000674.2:g.101770595dup	GRCh38
NC_000012.11:g.102164373dup , CM000674.1:g.102164373dup	GRCh37
NC_000012.10:g.100688504dup	NCBI36
NG_021243.1:g.65277dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.934-6dup MANE Select	ENSP00000299314.7:n.934-6dup
ENST00000299314.11:c.934-6dup	ENSP00000299314.7:n.934-6dup
ENST00000549940.5:c.934-6dup	ENSP00000449150.1:n.934-6dup
NM_024312.4:c.934-6dup	NP_077288.2:n.934-6dup
XM_006719593.2:c.934-6dup	XP_006719656.1:n.934-6dup
XM_011538731.1:c.853-6dup	XP_011537033.1:n.853-6dup
XM_006719593.3:c.934-6dup	XP_006719656.1:n.934-6dup
XM_011538731.2:c.853-6dup	XP_011537033.1:n.853-6dup
XM_017019961.1:c.718-6dup	XP_016875450.1:n.718-6dup
XM_017019962.2:c.-300dup	XP_016875451.1:n.-300dup
NM_024312.5:c.934-6dup MANE Select	NP_077288.2:n.934-6dup