Canonical Allele Identifier: CA620700269

Gene: GNPTG

Linked Data

• dbSNP Id: rs1402520479
• gnomAD v2: 16-1412927-A-AG
• MyVariant Identifiers: chr16:g.1412927_1412928insG (hg19) ; chr16:g.1362926_1362927insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362929dup , CM000678.2:g.1362929dup	GRCh38
NC_000016.9:g.1412930dup , CM000678.1:g.1412930dup	GRCh37
NC_000016.8:g.1352931dup	NCBI36
NG_016985.1:g.16031dup
NG_033129.1:g.56778dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.922+23dup
ENST00000529110.2:c.907+23dup	ENSP00000435349.2:n.907+23dup
ENST00000529957.6:n.881+23dup
ENST00000683366.1:c.*555+23dup	ENSP00000507283.1:n.*555+23dup
ENST00000683887.1:c.871+23dup	ENSP00000506886.1:n.871+23dup
ENST00000684100.1:n.817+23dup
ENST00000684126.1:n.957+23dup
ENST00000684688.1:n.1448+23dup
ENST00000204679.9:c.823+23dup MANE Select	ENSP00000204679.4:n.823+23dup
ENST00000204679.8:c.823+23dup	ENSP00000204679.4:n.823+23dup
ENST00000527076.1:n.2046+23dup
ENST00000527168.5:n.990+23dup
NM_032520.4:c.823+23dup	NP_115909.1:n.823+23dup
XM_017023782.1:c.871+23dup	XP_016879271.1:n.871+23dup
XM_017023783.1:c.463+23dup	XP_016879272.1:n.463+23dup
NM_032520.5:c.823+23dup MANE Select	NP_115909.1:n.823+23dup