Canonical Allele Identifier: CA276656061

Gene: GNPTG

Linked Data

• dbSNP Id: rs954565532
• gnomAD v4: 16-1361663-C-CGACCA
• MyVariant Identifiers: chr16:g.1411664_1411665insGACCA (hg19) ; chr16:g.1361663_1361664insGACCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361663_1361664insGACCA , CM000678.2:g.1361663_1361664insGACCA	GRCh38
NC_000016.9:g.1411664_1411665insGACCA , CM000678.1:g.1411664_1411665insGACCA	GRCh37
NC_000016.8:g.1351665_1351666insGACCA	NCBI36
NG_016985.1:g.14765_14766insGACCA
NG_033129.1:g.58041_58042insTGGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.278-80_278-79insGACCA
ENST00000529110.2:c.263-80_263-79insGACCA	ENSP00000435349.2:n.263-80_263-79insGACCA
ENST00000529957.6:n.237-80_237-79insGACCA
ENST00000683366.1:c.179-209_179-208insGACCA	ENSP00000507283.1:n.179-209_179-208insGACCA
ENST00000683887.1:c.179-32_179-31insGACCA	ENSP00000506886.1:n.179-32_179-31insGACCA
ENST00000684100.1:n.19_20insGACCA
ENST00000684126.1:n.237-80_237-79insGACCA
ENST00000684688.1:n.724_725insGACCA
ENST00000204679.9:c.179-80_179-79insGACCA MANE Select	ENSP00000204679.4:n.179-80_179-79insGACCA
ENST00000204679.8:c.179-80_179-79insGACCA	ENSP00000204679.4:n.179-80_179-79insGACCA
ENST00000526820.5:c.*81-80_*81-79insGACCA	ENSP00000434413.1:n.*81-80_*81-79insGACCA
ENST00000527076.1:n.1041_1042insGACCA
ENST00000527168.5:n.270-209_270-208insGACCA
ENST00000529110.1:c.246-80_246-79insGACCA
ENST00000529957.5:n.278-80_278-79insGACCA
NM_032520.4:c.179-80_179-79insGACCA	NP_115909.1:n.179-80_179-79insGACCA
XM_017023782.1:c.179-32_179-31insGACCA	XP_016879271.1:n.179-32_179-31insGACCA
XM_017023783.1:c.-182-80_-182-79insGACCA	XP_016879272.1:n.-182-80_-182-79insGACCA
NM_032520.5:c.179-80_179-79insGACCA MANE Select	NP_115909.1:n.179-80_179-79insGACCA