Canonical Allele Identifier: CA7807941

Gene: GNPTG

Linked Data

• dbSNP Id: rs751562009
• ExAC: 16:1412842 C / CAAAGGAGATCA
• gnomAD v2: 16-1412842-C-CAAAGGAGATCA
• gnomAD v4: 16-1362841-C-CAAAGGAGATCA
• MyVariant Identifiers: chr16:g.1412842_1412843insAAAGGAGATCA (hg19) ; chr16:g.1362841_1362842insAAAGGAGATCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362847_1362857dup , CM000678.2:g.1362847_1362857dup	GRCh38
NC_000016.9:g.1412848_1412858dup , CM000678.1:g.1412848_1412858dup	GRCh37
NC_000016.8:g.1352849_1352859dup	NCBI36
NG_016985.1:g.15949_15959dup
NG_033129.1:g.56853_56863dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.863_873dup
ENST00000529110.2:c.848_858dup	ENSP00000435349.2:p.Leu287ArgfsTer5
ENST00000529957.6:n.822_832dup
ENST00000683366.1:c.*496_*506dup	ENSP00000507283.1:n.*496_*506dup
ENST00000683887.1:c.812_822dup	ENSP00000506886.1:p.Leu275ArgfsTer5
ENST00000684100.1:n.758_768dup
ENST00000684126.1:n.898_908dup
ENST00000684688.1:n.1389_1399dup
ENST00000204679.9:c.764_774dup MANE Select	ENSP00000204679.4:p.Leu259ArgfsTer5
ENST00000204679.8:c.764_774dup	ENSP00000204679.4:p.Leu259ArgfsTer5
ENST00000527076.1:n.1987_1997dup
ENST00000527168.5:n.931_941dup
ENST00000529957.5:n.863_873dup
NM_032520.4:c.764_774dup	NP_115909.1:p.Leu259ArgfsTer5
XM_017023782.1:c.812_822dup	XP_016879271.1:p.Leu275ArgfsTer5
XM_017023783.1:c.404_414dup	XP_016879272.1:p.Leu139ArgfsTer5
NM_032520.5:c.764_774dup MANE Select	NP_115909.1:p.Leu259ArgfsTer5