Canonical Allele Identifier: CA7807937

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1072459
• ClinVar RCV Id: RCV001385187
• dbSNP Id: rs766055577
• ExAC: 16:1412831 TAAAG / T
• gnomAD v2: 16-1412831-TAAAG-T
• gnomAD v4: 16-1362830-TAAAG-T
• MyVariant Identifiers: chr16:g.1412832_1412835del (hg19) ; chr16:g.1362831_1362834del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362833_1362836del , CM000678.2:g.1362833_1362836del	GRCh38
NC_000016.9:g.1412834_1412837del , CM000678.1:g.1412834_1412837del	GRCh37
NC_000016.8:g.1352835_1352838del	NCBI36
NG_016985.1:g.15935_15938del
NG_033129.1:g.56871_56874del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.849_852del
ENST00000529110.2:c.834_837del	ENSP00000435349.2:p.Lys278AsnfsTer9
ENST00000529957.6:n.808_811del
ENST00000683366.1:c.*482_*485del	ENSP00000507283.1:n.*482_*485del
ENST00000683887.1:c.798_801del	ENSP00000506886.1:p.Lys266AsnfsTer9
ENST00000684100.1:n.744_747del
ENST00000684126.1:n.884_887del
ENST00000684688.1:n.1375_1378del
ENST00000204679.9:c.750_753del MANE Select	ENSP00000204679.4:p.Lys250AsnfsTer9
ENST00000204679.8:c.750_753del	ENSP00000204679.4:p.Lys250AsnfsTer9
ENST00000527076.1:n.1973_1976del
ENST00000527168.5:n.917_920del
ENST00000529957.5:n.849_852del
NM_032520.4:c.750_753del	NP_115909.1:p.Lys250AsnfsTer9
XM_017023782.1:c.798_801del	XP_016879271.1:p.Lys266AsnfsTer9
XM_017023783.1:c.390_393del	XP_016879272.1:p.Lys130AsnfsTer9
NM_032520.5:c.750_753del MANE Select	NP_115909.1:p.Lys250AsnfsTer9