Canonical Allele Identifier: CA2630958715

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1361852-C-CATGCCATCT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361853_1361861dup , CM000678.2:g.1361853_1361861dup	GRCh38
NC_000016.9:g.1411854_1411862dup , CM000678.1:g.1411854_1411862dup	GRCh37
NC_000016.8:g.1351855_1351863dup	NCBI36
NG_016985.1:g.14955_14963dup
NG_033129.1:g.57844_57852dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.333-19_333-11dup
ENST00000529110.2:c.318-19_318-11dup	ENSP00000435349.2:n.318-19_318-11dup
ENST00000529957.6:n.292-19_292-11dup
ENST00000683366.1:c.179-19_179-11dup	ENSP00000507283.1:n.179-19_179-11dup
ENST00000683887.1:c.282-19_282-11dup	ENSP00000506886.1:n.282-19_282-11dup
ENST00000684100.1:n.209_217dup
ENST00000684126.1:n.292-19_292-11dup
ENST00000684688.1:n.859-19_859-11dup
ENST00000204679.9:c.234-19_234-11dup MANE Select	ENSP00000204679.4:n.234-19_234-11dup
ENST00000204679.8:c.234-19_234-11dup	ENSP00000204679.4:n.234-19_234-11dup
ENST00000526820.5:c.*136-19_*136-11dup	ENSP00000434413.1:n.*136-19_*136-11dup
ENST00000527076.1:n.1231_1239dup
ENST00000527168.5:n.270-19_270-11dup
ENST00000529110.1:c.301-19_301-11dup
ENST00000529957.5:n.333-19_333-11dup
NM_032520.4:c.234-19_234-11dup	NP_115909.1:n.234-19_234-11dup
XM_017023782.1:c.282-19_282-11dup	XP_016879271.1:n.282-19_282-11dup
XM_017023783.1:c.-127-19_-127-11dup	XP_016879272.1:n.-127-19_-127-11dup
NM_032520.5:c.234-19_234-11dup MANE Select	NP_115909.1:n.234-19_234-11dup