Canonical Allele Identifier: CA2620428763

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101761766-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761770dup , CM000674.2:g.101761770dup	GRCh38
NC_000012.11:g.102155548dup , CM000674.1:g.102155548dup	GRCh37
NC_000012.10:g.100679679dup	NCBI36
NG_021243.1:g.74101dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2716-4dup MANE Select	ENSP00000299314.7:n.2716-4dup
ENST00000299314.11:c.2716-4dup	ENSP00000299314.7:n.2716-4dup
NM_024312.4:c.2716-4dup	NP_077288.2:n.2716-4dup
XM_006719593.2:c.2716-4dup	XP_006719656.1:n.2716-4dup
XM_011538731.1:c.2635-4dup	XP_011537033.1:n.2635-4dup
XM_006719593.3:c.2716-4dup	XP_006719656.1:n.2716-4dup
XM_011538731.2:c.2635-4dup	XP_011537033.1:n.2635-4dup
XM_017019961.1:c.2500-4dup	XP_016875450.1:n.2500-4dup
XM_017019962.2:c.1489-4dup	XP_016875451.1:n.1489-4dup
NM_024312.5:c.2716-4dup MANE Select	NP_077288.2:n.2716-4dup