Canonical Allele Identifier: CA682739163

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1346787796
• MyVariant Identifiers: chr12:g.102179707_102179722del (hg19) ; chr12:g.101785929_101785944del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101785929_101785944del , CM000674.2:g.101785929_101785944del	GRCh38
NC_000012.11:g.102179707_102179722del , CM000674.1:g.102179707_102179722del	GRCh37
NC_000012.10:g.100703838_100703853del	NCBI36
NG_021243.1:g.49924_49939del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.571+68_571+83del MANE Select	ENSP00000299314.7:n.571+68_571+83del
ENST00000299314.11:c.571+68_571+83del	ENSP00000299314.7:n.571+68_571+83del
ENST00000549940.5:c.571+68_571+83del	ENSP00000449150.1:n.571+68_571+83del
ENST00000550352.1:n.433_448del
ENST00000552681.1:c.205+68_205+83del	ENSP00000449217.1:n.205+68_205+83del
NM_024312.4:c.571+68_571+83del	NP_077288.2:n.571+68_571+83del
XM_006719593.2:c.571+68_571+83del	XP_006719656.1:n.571+68_571+83del
XM_011538731.1:c.490+68_490+83del	XP_011537033.1:n.490+68_490+83del
XM_006719593.3:c.571+68_571+83del	XP_006719656.1:n.571+68_571+83del
XM_011538731.2:c.490+68_490+83del	XP_011537033.1:n.490+68_490+83del
XM_017019961.1:c.355+68_355+83del	XP_016875450.1:n.355+68_355+83del
XM_017019962.2:c.-780+68_-780+83del	XP_016875451.1:n.-780+68_-780+83del
NM_024312.5:c.571+68_571+83del MANE Select	NP_077288.2:n.571+68_571+83del