Canonical Allele Identifier: CA620700249
Gene: GNPTG HGNC NCBI

Linked Data

dbSNP Id: rs1567185292
gnomAD v2: 16-1412819-T-TTGGTAGGCTCATAAAGAACTCTCAAAGGAGATCAAAAGGCTGAAAGGTTTGCTCACCCAGCACGGCATCCCCTACACGA
gnomAD v4: 16-1362818-T-TTGGTAGGCTCATAAAGAACTCTCAAAGGAGATCAAAAGGCTGAAAGGTTTGCTCACCCAGCACGGCATCCCCTACACGA
MyVariant Identifiers: chr16:g.1412819_1412820insTGGTAGGCTCATAAAGAACTCTCAAAGGAGATCAAAAGGCTGAAAGGTTTGCTCACCCAGCACGGCATCCCCTACACGA (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362819_1362897dup , CM000678.2:g.1362819_1362897dup GRCh38
NC_000016.9:g.1412820_1412898dup , CM000678.1:g.1412820_1412898dup GRCh37
NC_000016.8:g.1352821_1352899dup NCBI36
NG_016985.1:g.15921_15999dup
NG_033129.1:g.56808_56886dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.841-6_913dup
ENST00000529110.2:c.826-6_898dup
ENST00000529957.6:n.800-6_872dup
ENST00000683366.1:c.*474-6_*546dup
ENST00000683887.1:c.790-6_862dup
ENST00000684100.1:n.736-6_808dup
ENST00000684126.1:n.876-6_948dup
ENST00000684688.1:n.1367-6_1439dup
ENST00000204679.9:c.742-6_814dup
ENST00000204679.8:c.742-6_814dup
ENST00000527076.1:n.1965-6_2037dup
ENST00000527168.5:n.909-6_981dup
ENST00000529957.5:n.841-6_913dup
NM_032520.4:c.742-6_814dup
XM_017023782.1:c.790-6_862dup
XM_017023783.1:c.382-6_454dup
NM_032520.5:c.742-6_814dup
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