Canonical Allele Identifier: CA2630960871

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362526-A-ACCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362529_1362532dup , CM000678.2:g.1362529_1362532dup	GRCh38
NC_000016.9:g.1412530_1412533dup , CM000678.1:g.1412530_1412533dup	GRCh37
NC_000016.8:g.1352531_1352534dup	NCBI36
NG_016985.1:g.15631_15634dup
NG_033129.1:g.57175_57178dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.703_706dup
ENST00000529110.2:c.688_691dup	ENSP00000435349.2:p.Gln231ProfsTer5
ENST00000529957.6:n.662_665dup
ENST00000683366.1:c.*336_*339dup	ENSP00000507283.1:n.*336_*339dup
ENST00000683887.1:c.652_655dup	ENSP00000506886.1:p.Gln219ProfsTer5
ENST00000684100.1:n.598_601dup
ENST00000684126.1:n.662_665dup
ENST00000684688.1:n.1229_1232dup
ENST00000204679.9:c.604_607dup MANE Select	ENSP00000204679.4:p.Gln203ProfsTer5
ENST00000204679.8:c.604_607dup	ENSP00000204679.4:p.Gln203ProfsTer5
ENST00000527076.1:n.1751_1754dup
ENST00000527168.5:n.771_774dup
ENST00000529957.5:n.703_706dup
NM_032520.4:c.604_607dup	NP_115909.1:p.Gln203ProfsTer5
XM_017023782.1:c.652_655dup	XP_016879271.1:p.Gln219ProfsTer5
XM_017023783.1:c.244_247dup	XP_016879272.1:p.Gln83ProfsTer5
NM_032520.5:c.604_607dup MANE Select	NP_115909.1:p.Gln203ProfsTer5