Canonical Allele Identifier: CA2630957879

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1361602-CCACTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361607_1361611del , CM000678.2:g.1361607_1361611del	GRCh38
NC_000016.9:g.1411608_1411612del , CM000678.1:g.1411608_1411612del	GRCh37
NC_000016.8:g.1351609_1351613del	NCBI36
NG_016985.1:g.14709_14713del
NG_033129.1:g.58098_58102del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.278-136_278-132del
ENST00000529110.2:c.263-136_263-132del	ENSP00000435349.2:n.263-136_263-132del
ENST00000529957.6:n.237-136_237-132del
ENST00000683366.1:c.179-265_179-261del	ENSP00000507283.1:n.179-265_179-261del
ENST00000683887.1:c.179-88_179-84del	ENSP00000506886.1:n.179-88_179-84del
ENST00000684126.1:n.237-136_237-132del
ENST00000684688.1:n.668_672del
ENST00000204679.9:c.179-136_179-132del MANE Select	ENSP00000204679.4:n.179-136_179-132del
ENST00000204679.8:c.179-136_179-132del	ENSP00000204679.4:n.179-136_179-132del
ENST00000526820.5:c.*81-136_*81-132del	ENSP00000434413.1:n.*81-136_*81-132del
ENST00000527076.1:n.985_989del
ENST00000527168.5:n.270-265_270-261del
ENST00000529110.1:c.246-136_246-132del
ENST00000529957.5:n.278-136_278-132del
NM_032520.4:c.179-136_179-132del	NP_115909.1:n.179-136_179-132del
XM_017023782.1:c.179-88_179-84del	XP_016879271.1:n.179-88_179-84del
XM_017023783.1:c.-182-136_-182-132del	XP_016879272.1:n.-182-136_-182-132del
NM_032520.5:c.179-136_179-132del MANE Select	NP_115909.1:n.179-136_179-132del