Canonical Allele Identifier: CA718227145

Gene: GNPTG

Linked Data

• dbSNP Id: rs1491392274
• gnomAD v3: 16-1361676-ACT-A
• gnomAD v4: 16-1361676-ACT-A
• MyVariant Identifiers: chr16:g.1411678_1411679del (hg19) ; chr16:g.1361677_1361678del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361679_1361680del , CM000678.2:g.1361679_1361680del	GRCh38
NC_000016.9:g.1411680_1411681del , CM000678.1:g.1411680_1411681del	GRCh37
NC_000016.8:g.1351681_1351682del	NCBI36
NG_016985.1:g.14781_14782del
NG_033129.1:g.58027_58028del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.278-64_278-63del
ENST00000529110.2:c.263-64_263-63del	ENSP00000435349.2:n.263-64_263-63del
ENST00000529957.6:n.237-64_237-63del
ENST00000683366.1:c.179-193_179-192del	ENSP00000507283.1:n.179-193_179-192del
ENST00000683887.1:c.179-16_179-15del	ENSP00000506886.1:n.179-16_179-15del
ENST00000684100.1:n.35_36del
ENST00000684126.1:n.237-64_237-63del
ENST00000684688.1:n.740_741del
ENST00000204679.9:c.179-64_179-63del MANE Select	ENSP00000204679.4:n.179-64_179-63del
ENST00000204679.8:c.179-64_179-63del	ENSP00000204679.4:n.179-64_179-63del
ENST00000526820.5:c.*81-64_*81-63del	ENSP00000434413.1:n.*81-64_*81-63del
ENST00000527076.1:n.1057_1058del
ENST00000527168.5:n.270-193_270-192del
ENST00000529110.1:c.246-64_246-63del
ENST00000529957.5:n.278-64_278-63del
NM_032520.4:c.179-64_179-63del	NP_115909.1:n.179-64_179-63del
XM_017023782.1:c.179-16_179-15del	XP_016879271.1:n.179-16_179-15del
XM_017023783.1:c.-182-64_-182-63del	XP_016879272.1:n.-182-64_-182-63del
NM_032520.5:c.179-64_179-63del MANE Select	NP_115909.1:n.179-64_179-63del