Canonical Allele Identifier: CA620700159

Gene: GNPTG

Linked Data

• dbSNP Id: rs1460315271
• gnomAD v2: 16-1412433-GGCTTCTCTTGGGTCCTCAGTGTACCCAACCCTGCCAGA-G
• gnomAD v3: 16-1362432-GGCTTCTCTTGGGTCCTCAGTGTACCCAACCCTGCCAGA-G
• gnomAD v4: 16-1362432-GGCTTCTCTTGGGTCCTCAGTGTACCCAACCCTGCCAGA-G
• MyVariant Identifiers: chr16:g.1412434_1412471del (hg19) ; chr16:g.1362433_1362470del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362434_1362471del , CM000678.2:g.1362434_1362471del	GRCh38
NC_000016.9:g.1412435_1412472del , CM000678.1:g.1412435_1412472del	GRCh37
NC_000016.8:g.1352436_1352473del	NCBI36
NG_016985.1:g.15536_15573del
NG_033129.1:g.57235_57272del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.626-18_645del
ENST00000529110.2:c.611-18_630del
ENST00000529957.6:n.585-18_604del
ENST00000683366.1:c.*259-18_*278del
ENST00000683887.1:c.575-18_594del
ENST00000684100.1:n.521-18_540del
ENST00000684126.1:n.585-18_604del
ENST00000684688.1:n.1152-18_1171del
ENST00000204679.9:c.527-18_546del
ENST00000204679.8:c.527-18_546del
ENST00000527076.1:n.1656_1693del
ENST00000527168.5:n.676_713del
ENST00000529957.5:n.626-18_645del
NM_032520.4:c.527-18_546del
XM_017023782.1:c.575-18_594del
XM_017023783.1:c.167-18_186del
NM_032520.5:c.527-18_546del