Canonical Allele Identifier: CA275054

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 194986
• ClinVar RCV Id: RCV000175480
• dbSNP Id: rs781689303
• ExAC: 12:102147190 ACT / A
• gnomAD v4: 12-101753412-ACT-A
• MyVariant Identifiers: chr12:g.102147191_102147192del (hg19) ; chr12:g.102147191_102147192delCT (hg19) ; chr12:g.101753413_101753414del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753417_101753418del , CM000674.2:g.101753417_101753418del	GRCh38
NC_000012.11:g.102147195_102147196del , CM000674.1:g.102147195_102147196del	GRCh37
NC_000012.10:g.100671326_100671327del	NCBI36
NG_021243.1:g.82454_82455del

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3560_3561del MANE Select	ENSP00000299314.7:p.Glu1187ValfsTer10
ENST00000299314.11:c.3560_3561del	ENSP00000299314.7:p.Glu1187ValfsTer10
ENST00000549738.5:c.458_459del	ENSP00000450161.1:n.458_459del
NM_024312.4:c.3560_3561del	NP_077288.2:p.Glu1187ValfsTer10
XM_011538731.1:c.3479_3480del	XP_011537033.1:p.Glu1160ValfsTer10
XM_011538731.2:c.3479_3480del	XP_011537033.1:p.Glu1160ValfsTer10
XM_017019961.1:c.3344_3345del	XP_016875450.1:p.Glu1115ValfsTer10
XM_017019962.2:c.2333_2334del	XP_016875451.1:p.Glu778ValfsTer10
NM_024312.5:c.3560_3561del MANE Select	NP_077288.2:p.Glu1187ValfsTer10