Canonical Allele Identifier: CA682738962

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1451380364
• MyVariant Identifiers: chr12:g.102179288_102179289insC (hg19) ; chr12:g.101785510_101785511insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101785513dup , CM000674.2:g.101785513dup	GRCh38
NC_000012.11:g.102179291dup , CM000674.1:g.102179291dup	GRCh37
NC_000012.10:g.100703422dup	NCBI36
NG_021243.1:g.50357dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.571+501dup MANE Select	ENSP00000299314.7:n.571+501dup
ENST00000299314.11:c.571+501dup	ENSP00000299314.7:n.571+501dup
ENST00000549940.5:c.571+501dup	ENSP00000449150.1:n.571+501dup
ENST00000552681.1:c.205+501dup	ENSP00000449217.1:n.205+501dup
NM_024312.4:c.571+501dup	NP_077288.2:n.571+501dup
XM_006719593.2:c.571+501dup	XP_006719656.1:n.571+501dup
XM_011538731.1:c.490+501dup	XP_011537033.1:n.490+501dup
XM_006719593.3:c.571+501dup	XP_006719656.1:n.571+501dup
XM_011538731.2:c.490+501dup	XP_011537033.1:n.490+501dup
XM_017019961.1:c.355+501dup	XP_016875450.1:n.355+501dup
XM_017019962.2:c.-780+501dup	XP_016875451.1:n.-780+501dup
NM_024312.5:c.571+501dup MANE Select	NP_077288.2:n.571+501dup