Canonical Allele Identifier: CA7807719

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 960425
• ClinVar RCV Id: RCV001233949 ; RCV001780169
• dbSNP Id: rs753596034
• ExAC: 16:1412272 C / CGTAG
• gnomAD v2: 16-1412272-C-CGTAG
• gnomAD v4: 16-1362271-C-CGTAG
• MyVariant Identifiers: chr16:g.1412272_1412273insGTAG (hg19) ; chr16:g.1362271_1362272insGTAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362272_1362273insTAGG , CM000678.2:g.1362272_1362273insTAGG	GRCh38
NC_000016.9:g.1412273_1412274insTAGG , CM000678.1:g.1412273_1412274insTAGG	GRCh37
NC_000016.8:g.1352274_1352275insTAGG	NCBI36
NG_016985.1:g.15374_15375insTAGG
NG_033129.1:g.57433_57434insCTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.577_578insTAGG
ENST00000529110.2:c.562_563insTAGG	ENSP00000435349.2:p.Ala188ValfsTer?
ENST00000529957.6:n.536_537insTAGG
ENST00000683366.1:c.*210_*211insTAGG	ENSP00000507283.1:n.*210_*211insTAGG
ENST00000683887.1:c.526_527insTAGG	ENSP00000506886.1:p.Ala176ValfsTer?
ENST00000684100.1:n.472_473insTAGG
ENST00000684126.1:n.536_537insTAGG
ENST00000684688.1:n.1103_1104insTAGG
ENST00000204679.9:c.478_479insTAGG MANE Select	ENSP00000204679.4:p.Ala160ValfsTer?
ENST00000204679.8:c.478_479insTAGG	ENSP00000204679.4:p.Ala160ValfsTer?
ENST00000527076.1:n.1494_1495insTAGG
ENST00000527168.5:n.514_515insTAGG
ENST00000529110.1:c.545_546insTAGG
ENST00000529957.5:n.577_578insTAGG
NM_032520.4:c.478_479insTAGG	NP_115909.1:p.Ala160ValfsTer?
XM_017023782.1:c.526_527insTAGG	XP_016879271.1:p.Ala176ValfsTer?
XM_017023783.1:c.118_119insTAGG	XP_016879272.1:p.Ala40ValfsTer?
NM_032520.5:c.478_479insTAGG MANE Select	NP_115909.1:p.Ala160ValfsTer?