Canonical Allele Identifier: CA2201614057

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361878_1361880delinsGTA , CM000678.2:g.1361878_1361880delinsGTA	GRCh38
NC_000016.9:g.1411879_1411881delinsGTA , CM000678.1:g.1411879_1411881delinsGTA	GRCh37
NC_000016.8:g.1351880_1351882delinsGTA	NCBI36
NG_016985.1:g.14980_14982delinsGTA
NG_033129.1:g.57825_57827delinsTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.339_341delinsGTA
ENST00000529110.2:c.324_326delinsGTA	ENSP00000435349.2:p.Lys108=
ENST00000529957.6:n.298_300delinsGTA
ENST00000683366.1:c.185_187delinsGTA	ENSP00000507283.1:p.Ser62=
ENST00000683887.1:c.288_290delinsGTA	ENSP00000506886.1:p.Lys96=
ENST00000684100.1:n.234_236delinsGTA
ENST00000684126.1:n.298_300delinsGTA
ENST00000684688.1:n.865_867delinsGTA
ENST00000204679.9:c.240_242delinsGTA MANE Select	ENSP00000204679.4:p.Lys80=
ENST00000204679.8:c.240_242delinsGTA	ENSP00000204679.4:p.Lys80=
ENST00000526820.5:c.*142_*144delinsGTA	ENSP00000434413.1:n.*142_*144delinsGTA
ENST00000527076.1:n.1256_1258delinsGTA
ENST00000527168.5:n.276_278delinsGTA
ENST00000529110.1:c.307_309delinsGTA
ENST00000529957.5:n.339_341delinsGTA
NM_032520.4:c.240_242delinsGTA	NP_115909.1:p.Lys80=
XM_017023782.1:c.288_290delinsGTA	XP_016879271.1:p.Lys96=
XM_017023783.1:c.-121_-119delinsGTA	XP_016879272.1:n.-121_-119delinsGTA
NM_032520.5:c.240_242delinsGTA MANE Select	NP_115909.1:p.Lys80=