Canonical Allele Identifier: CA919160014

Gene: GNPTAB

Linked Data

• dbSNP Id: rs76300806
• gnomAD v4: 12-101830713-A-AGCCGCCGCCGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830726_101830737dup , CM000674.2:g.101830726_101830737dup	GRCh38
NC_000012.11:g.102224504_102224515dup , CM000674.1:g.102224504_102224515dup	GRCh37
NC_000012.10:g.100748635_100748646dup	NCBI36
NG_021243.1:g.5143_5154dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-50_-39dup MANE Select	ENSP00000299314.7:n.-50_-39dup
ENST00000299314.11:c.-50_-39dup	ENSP00000299314.7:n.-50_-39dup
ENST00000392919.4:c.-50_-39dup	ENSP00000376651.4:n.-50_-39dup
ENST00000549940.5:c.-50_-39dup	ENSP00000449150.1:n.-50_-39dup
NM_024312.4:c.-50_-39dup	NP_077288.2:n.-50_-39dup
XM_006719593.2:c.-50_-39dup	XP_006719656.1:n.-50_-39dup
XM_006719593.3:c.-50_-39dup	XP_006719656.1:n.-50_-39dup
XM_017019961.1:c.-199_-188dup	XP_016875450.1:n.-199_-188dup
XM_017019962.2:c.-1400_-1389dup	XP_016875451.1:n.-1400_-1389dup
NM_024312.5:c.-50_-39dup MANE Select	NP_077288.2:n.-50_-39dup