Canonical Allele Identifier: CA2620445497

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101785947-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101785949_101785950del , CM000674.2:g.101785949_101785950del	GRCh38
NC_000012.11:g.102179727_102179728del , CM000674.1:g.102179727_102179728del	GRCh37
NC_000012.10:g.100703858_100703859del	NCBI36
NG_021243.1:g.49919_49920del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.571+63_571+64del MANE Select	ENSP00000299314.7:n.571+63_571+64del
ENST00000299314.11:c.571+63_571+64del	ENSP00000299314.7:n.571+63_571+64del
ENST00000549940.5:c.571+63_571+64del	ENSP00000449150.1:n.571+63_571+64del
ENST00000550352.1:n.428_429del
ENST00000552681.1:c.205+63_205+64del	ENSP00000449217.1:n.205+63_205+64del
NM_024312.4:c.571+63_571+64del	NP_077288.2:n.571+63_571+64del
XM_006719593.2:c.571+63_571+64del	XP_006719656.1:n.571+63_571+64del
XM_011538731.1:c.490+63_490+64del	XP_011537033.1:n.490+63_490+64del
XM_006719593.3:c.571+63_571+64del	XP_006719656.1:n.571+63_571+64del
XM_011538731.2:c.490+63_490+64del	XP_011537033.1:n.490+63_490+64del
XM_017019961.1:c.355+63_355+64del	XP_016875450.1:n.355+63_355+64del
XM_017019962.2:c.-780+63_-780+64del	XP_016875451.1:n.-780+63_-780+64del
NM_024312.5:c.571+63_571+64del MANE Select	NP_077288.2:n.571+63_571+64del