Canonical Allele Identifier: CA620700209

Gene: GNPTG

Linked Data

• dbSNP Id: rs1417453750
• gnomAD v2: 16-1412573-CTGGGAGCTGGG-C
• gnomAD v4: 16-1362572-CTGGGAGCTGGG-C
• MyVariant Identifiers: chr16:g.1412574_1412584del (hg19) ; chr16:g.1362573_1362583del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362575_1362585del , CM000678.2:g.1362575_1362585del	GRCh38
NC_000016.9:g.1412576_1412586del , CM000678.1:g.1412576_1412586del	GRCh37
NC_000016.8:g.1352577_1352587del	NCBI36
NG_016985.1:g.15677_15687del
NG_033129.1:g.57122_57132del

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.709-36_709-26del
ENST00000529110.2:c.694-36_694-26del	ENSP00000435349.2:n.694-36_694-26del
ENST00000529957.6:n.668-36_668-26del
ENST00000683366.1:c.*342-36_*342-26del	ENSP00000507283.1:n.*342-36_*342-26del
ENST00000683887.1:c.658-36_658-26del	ENSP00000506886.1:n.658-36_658-26del
ENST00000684100.1:n.604-36_604-26del
ENST00000684126.1:n.708_718del
ENST00000684688.1:n.1235-36_1235-26del
ENST00000204679.9:c.610-36_610-26del MANE Select	ENSP00000204679.4:n.610-36_610-26del
ENST00000204679.8:c.610-36_610-26del	ENSP00000204679.4:n.610-36_610-26del
ENST00000527076.1:n.1797_1807del
ENST00000527168.5:n.777-36_777-26del
ENST00000529957.5:n.709-36_709-26del
NM_032520.4:c.610-36_610-26del	NP_115909.1:n.610-36_610-26del
XM_017023782.1:c.658-36_658-26del	XP_016879271.1:n.658-36_658-26del
XM_017023783.1:c.250-36_250-26del	XP_016879272.1:n.250-36_250-26del
NM_032520.5:c.610-36_610-26del MANE Select	NP_115909.1:n.610-36_610-26del