Canonical Allele Identifier: CA2589998301

Gene: GNPTG

Linked Data

• gnomAD v3: 16-1361722-TCAGTGTGAGGTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361723_1361734del , CM000678.2:g.1361723_1361734del	GRCh38
NC_000016.9:g.1411724_1411735del , CM000678.1:g.1411724_1411735del	GRCh37
NC_000016.8:g.1351725_1351736del	NCBI36
NG_016985.1:g.14825_14836del
NG_033129.1:g.57971_57982del

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.278-20_278-9del
ENST00000529110.2:c.263-20_263-9del	ENSP00000435349.2:n.263-20_263-9del
ENST00000529957.6:n.237-20_237-9del
ENST00000683366.1:c.179-149_179-138del	ENSP00000507283.1:n.179-149_179-138del
ENST00000683887.1:c.207_218del	ENSP00000506886.1:p.Ser70_Ser73del
ENST00000684100.1:n.79_90del
ENST00000684126.1:n.237-20_237-9del
ENST00000684688.1:n.784_795del
ENST00000204679.9:c.179-20_179-9del MANE Select	ENSP00000204679.4:n.179-20_179-9del
ENST00000204679.8:c.179-20_179-9del	ENSP00000204679.4:n.179-20_179-9del
ENST00000526820.5:c.*81-20_*81-9del	ENSP00000434413.1:n.*81-20_*81-9del
ENST00000527076.1:n.1101_1112del
ENST00000527168.5:n.270-149_270-138del
ENST00000529110.1:c.246-20_246-9del
ENST00000529957.5:n.278-20_278-9del
NM_032520.4:c.179-20_179-9del	NP_115909.1:n.179-20_179-9del
XM_017023782.1:c.207_218del	XP_016879271.1:p.Ser70_Ser73del
XM_017023783.1:c.-182-20_-182-9del	XP_016879272.1:n.-182-20_-182-9del
NM_032520.5:c.179-20_179-9del MANE Select	NP_115909.1:n.179-20_179-9del