Canonical Allele Identifier: CA620700259

Gene: GNPTG

Linked Data

• dbSNP Id: rs1436656670
• gnomAD v2: 16-1412843-AAAG-A
• gnomAD v4: 16-1362842-AAAG-A
• MyVariant Identifiers: chr16:g.1412844_1412846del (hg19) ; chr16:g.1362843_1362845del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362843_1362845del , CM000678.2:g.1362843_1362845del	GRCh38
NC_000016.9:g.1412844_1412846del , CM000678.1:g.1412844_1412846del	GRCh37
NC_000016.8:g.1352845_1352847del	NCBI36
NG_016985.1:g.15945_15947del
NG_033129.1:g.56860_56862del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.859_861del
ENST00000529110.2:c.844_846del	ENSP00000435349.2:p.Lys282del
ENST00000529957.6:n.818_820del
ENST00000683366.1:c.*492_*494del	ENSP00000507283.1:n.*492_*494del
ENST00000683887.1:c.808_810del	ENSP00000506886.1:p.Lys270del
ENST00000684100.1:n.754_756del
ENST00000684126.1:n.894_896del
ENST00000684688.1:n.1385_1387del
ENST00000204679.9:c.760_762del MANE Select	ENSP00000204679.4:p.Lys254del
ENST00000204679.8:c.760_762del	ENSP00000204679.4:p.Lys254del
ENST00000527076.1:n.1983_1985del
ENST00000527168.5:n.927_929del
ENST00000529957.5:n.859_861del
NM_032520.4:c.760_762del	NP_115909.1:p.Lys254del
XM_017023782.1:c.808_810del	XP_016879271.1:p.Lys270del
XM_017023783.1:c.400_402del	XP_016879272.1:p.Lys134del
NM_032520.5:c.760_762del MANE Select	NP_115909.1:p.Lys254del