Canonical Allele Identifier: CA2201614025

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361866_1361874delinsCCCCAGGTA , CM000678.2:g.1361866_1361874delinsCCCCAGGTA	GRCh38
NC_000016.9:g.1411867_1411875delinsCCCCAGGTA , CM000678.1:g.1411867_1411875delinsCCCCAGGTA	GRCh37
NC_000016.8:g.1351868_1351876delinsCCCCAGGTA	NCBI36
NG_016985.1:g.14968_14976delinsCCCCAGGTA
NG_033129.1:g.57831_57839delinsTACCTGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.333-6_335delinsCCCCAGGTA
ENST00000529110.2:c.318-6_320delinsCCCCAGGTA
ENST00000529957.6:n.292-6_294delinsCCCCAGGTA
ENST00000683366.1:c.179-6_181delinsCCCCAGGTA
ENST00000683887.1:c.282-6_284delinsCCCCAGGTA
ENST00000684100.1:n.222_230delinsCCCCAGGTA
ENST00000684126.1:n.292-6_294delinsCCCCAGGTA
ENST00000684688.1:n.859-6_861delinsCCCCAGGTA
ENST00000204679.9:c.234-6_236delinsCCCCAGGTA
ENST00000204679.8:c.234-6_236delinsCCCCAGGTA
ENST00000526820.5:c.*136-6_*138delinsCCCCAGGTA
ENST00000527076.1:n.1244_1252delinsCCCCAGGTA
ENST00000527168.5:n.270-6_272delinsCCCCAGGTA
ENST00000529110.1:c.301-6_303delinsCCCCAGGTA
ENST00000529957.5:n.333-6_335delinsCCCCAGGTA
NM_032520.4:c.234-6_236delinsCCCCAGGTA
XM_017023782.1:c.282-6_284delinsCCCCAGGTA
XM_017023783.1:c.-127-6_-125delinsCCCCAGGTA
NM_032520.5:c.234-6_236delinsCCCCAGGTA