Canonical Allele Identifier: CA682784088

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1292129550
• gnomAD v3: 12-101761672-CT-C
• gnomAD v4: 12-101761672-CT-C
• MyVariant Identifiers: chr12:g.102155451del (hg19) ; chr12:g.101761673del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761673del , CM000674.2:g.101761673del	GRCh38
NC_000012.11:g.102155451del , CM000674.1:g.102155451del	GRCh37
NC_000012.10:g.100679582del	NCBI36
NG_021243.1:g.74195del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2806del MANE Select	ENSP00000299314.7:p.Arg936AspfsTer3
ENST00000299314.11:c.2806del	ENSP00000299314.7:p.Arg936AspfsTer3
NM_024312.4:c.2806del	NP_077288.2:p.Arg936AspfsTer3
XM_006719593.2:c.2806del	XP_006719656.1:p.Arg936AspfsTer3
XM_011538731.1:c.2725del	XP_011537033.1:p.Arg909AspfsTer3
XM_006719593.3:c.2806del	XP_006719656.1:p.Arg936AspfsTer3
XM_011538731.2:c.2725del	XP_011537033.1:p.Arg909AspfsTer3
XM_017019961.1:c.2590del	XP_016875450.1:p.Arg864AspfsTer3
XM_017019962.2:c.1579del	XP_016875451.1:p.Arg527AspfsTer3
NM_024312.5:c.2806del MANE Select	NP_077288.2:p.Arg936AspfsTer3