Canonical Allele Identifier: CA2805551946

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362061_1362063dup , CM000678.2:g.1362061_1362063dup	GRCh38
NC_000016.9:g.1412062_1412064dup , CM000678.1:g.1412062_1412064dup	GRCh37
NC_000016.8:g.1352063_1352065dup	NCBI36
NG_016985.1:g.15163_15165dup
NG_033129.1:g.57642_57644dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.440_442dup
ENST00000529110.2:c.425_427dup	ENSP00000435349.2:p.Ala142_Asn143insThr
ENST00000529957.6:n.399_401dup
ENST00000683366.1:c.*73_*75dup	ENSP00000507283.1:n.*73_*75dup
ENST00000683887.1:c.389_391dup	ENSP00000506886.1:p.Ala130_Asn131insThr
ENST00000684100.1:n.335_337dup
ENST00000684126.1:n.399_401dup
ENST00000684688.1:n.966_968dup
ENST00000204679.9:c.341_343dup MANE Select	ENSP00000204679.4:p.Ala114_Asn115insThr
ENST00000204679.8:c.341_343dup	ENSP00000204679.4:p.Ala114_Asn115insThr
ENST00000526820.5:c.*243_*245dup	ENSP00000434413.1:n.*243_*245dup
ENST00000527076.1:n.1357_1359dup
ENST00000527168.5:n.377_379dup
ENST00000529110.1:c.408_410dup
ENST00000529957.5:n.440_442dup
NM_032520.4:c.341_343dup	NP_115909.1:p.Ala114_Asn115insThr
XM_017023782.1:c.389_391dup	XP_016879271.1:p.Ala130_Asn131insThr
XM_017023783.1:c.-20_-18dup	XP_016879272.1:n.-20_-18dup
NM_032520.5:c.341_343dup MANE Select	NP_115909.1:p.Ala114_Asn115insThr