Canonical Allele Identifier: CA916083468

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 845267
• ClinVar RCV Id: RCV001048300
• dbSNP Id: rs2034916882
• gnomAD v4: 16-1362445-TCCTCAGTGTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362448_1362457del , CM000678.2:g.1362448_1362457del	GRCh38
NC_000016.9:g.1412449_1412458del , CM000678.1:g.1412449_1412458del	GRCh37
NC_000016.8:g.1352450_1352459del	NCBI36
NG_016985.1:g.15550_15559del
NG_033129.1:g.57250_57259del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.626-4_631del
ENST00000529110.2:c.611-4_616del
ENST00000529957.6:n.585-4_590del
ENST00000683366.1:c.*259-4_*264del
ENST00000683887.1:c.575-4_580del
ENST00000684100.1:n.521-4_526del
ENST00000684126.1:n.585-4_590del
ENST00000684688.1:n.1152-4_1157del
ENST00000204679.9:c.527-4_532del
ENST00000204679.8:c.527-4_532del
ENST00000527076.1:n.1670_1679del
ENST00000527168.5:n.690_699del
ENST00000529957.5:n.626-4_631del
NM_032520.4:c.527-4_532del
XM_017023782.1:c.575-4_580del
XM_017023783.1:c.167-4_172del
NM_032520.5:c.527-4_532del