Canonical Allele Identifier: CA919638857

Gene: GNPTG

Linked Data

• dbSNP Id: rs1211061813
• gnomAD v3: 16-1361643-CA-C
• gnomAD v4: 16-1361643-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361652del , CM000678.2:g.1361652del	GRCh38
NC_000016.9:g.1411653del , CM000678.1:g.1411653del	GRCh37
NC_000016.8:g.1351654del	NCBI36
NG_016985.1:g.14754del
NG_033129.1:g.58061del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.278-91del
ENST00000529110.2:c.263-91del	ENSP00000435349.2:n.263-91del
ENST00000529957.6:n.237-91del
ENST00000683366.1:c.179-220del	ENSP00000507283.1:n.179-220del
ENST00000683887.1:c.179-43del	ENSP00000506886.1:n.179-43del
ENST00000684126.1:n.237-91del
ENST00000684688.1:n.713del
ENST00000204679.9:c.179-91del MANE Select	ENSP00000204679.4:n.179-91del
ENST00000204679.8:c.179-91del	ENSP00000204679.4:n.179-91del
ENST00000526820.5:c.*81-91del	ENSP00000434413.1:n.*81-91del
ENST00000527076.1:n.1030del
ENST00000527168.5:n.270-220del
ENST00000529110.1:c.246-91del
ENST00000529957.5:n.278-91del
NM_032520.4:c.179-91del	NP_115909.1:n.179-91del
XM_017023782.1:c.179-43del	XP_016879271.1:n.179-43del
XM_017023783.1:c.-182-91del	XP_016879272.1:n.-182-91del
NM_032520.5:c.179-91del MANE Select	NP_115909.1:n.179-91del