Canonical Allele Identifier: CA1139664231

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 917842
• ClinVar RCV Id: RCV001175118
• dbSNP Id: rs2034895916
• gnomAD v4: 16-1362008-GCCTCACGTGCCGTGCCCGTGTCTCCCCAGCATCTGGCACGAGTGGGAGATCGCCAACAACAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362010_1362071del , CM000678.2:g.1362010_1362071del	GRCh38
NC_000016.9:g.1412011_1412072del , CM000678.1:g.1412011_1412072del	GRCh37
NC_000016.8:g.1352012_1352073del	NCBI36
NG_016985.1:g.15112_15173del
NG_033129.1:g.57635_57696del

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.417-28_450del
ENST00000529110.2:c.402-28_435del
ENST00000529957.6:n.376-28_409del
ENST00000683366.1:c.*50-28_*83del
ENST00000683887.1:c.366-28_399del
ENST00000684100.1:n.312-28_345del
ENST00000684126.1:n.376-28_409del
ENST00000684688.1:n.943-28_976del
ENST00000204679.9:c.318-28_351del
ENST00000204679.8:c.318-28_351del
ENST00000526820.5:c.*220-28_*253del
ENST00000527076.1:n.1334-28_1367del
ENST00000527168.5:n.354-28_387del
ENST00000529110.1:c.385-28_418del
ENST00000529957.5:n.417-28_450del
NM_032520.4:c.318-28_351del
XM_017023782.1:c.366-28_399del
XM_017023783.1:c.-43-28_-10del
NM_032520.5:c.318-28_351del