Canonical Allele Identifier: CA2620445407

Gene: GNPTAB

Linked Data

• dbSNP Id: rs2137144143
• gnomAD v4: 12-101785883-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101785887_101785888del , CM000674.2:g.101785887_101785888del	GRCh38
NC_000012.11:g.102179665_102179666del , CM000674.1:g.102179665_102179666del	GRCh37
NC_000012.10:g.100703796_100703797del	NCBI36
NG_021243.1:g.49983_49984del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.571+127_571+128del MANE Select	ENSP00000299314.7:n.571+127_571+128del
ENST00000299314.11:c.571+127_571+128del	ENSP00000299314.7:n.571+127_571+128del
ENST00000549940.5:c.571+127_571+128del	ENSP00000449150.1:n.571+127_571+128del
ENST00000550352.1:n.492_493del
ENST00000552681.1:c.205+127_205+128del	ENSP00000449217.1:n.205+127_205+128del
NM_024312.4:c.571+127_571+128del	NP_077288.2:n.571+127_571+128del
XM_006719593.2:c.571+127_571+128del	XP_006719656.1:n.571+127_571+128del
XM_011538731.1:c.490+127_490+128del	XP_011537033.1:n.490+127_490+128del
XM_006719593.3:c.571+127_571+128del	XP_006719656.1:n.571+127_571+128del
XM_011538731.2:c.490+127_490+128del	XP_011537033.1:n.490+127_490+128del
XM_017019961.1:c.355+127_355+128del	XP_016875450.1:n.355+127_355+128del
XM_017019962.2:c.-780+127_-780+128del	XP_016875451.1:n.-780+127_-780+128del
NM_024312.5:c.571+127_571+128del MANE Select	NP_077288.2:n.571+127_571+128del