Canonical Allele Identifier: CA620700265

Gene: GNPTG

Linked Data

• dbSNP Id: rs1567185567
• gnomAD v2: 16-1412889-C-CCCTACACGAGGCCCACAGGTGAGTCACCT
• MyVariant Identifiers: chr16:g.1412889_1412890insCCTACACGAGGCCCACAGGTGAGTCACCT (hg19) ; chr16:g.1362888_1362889insCCTACACGAGGCCCACAGGTGAGTCACCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362889_1362917dup , CM000678.2:g.1362889_1362917dup	GRCh38
NC_000016.9:g.1412890_1412918dup , CM000678.1:g.1412890_1412918dup	GRCh37
NC_000016.8:g.1352891_1352919dup	NCBI36
NG_016985.1:g.15991_16019dup
NG_033129.1:g.56788_56816dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.905_922+11dup
ENST00000529110.2:c.890_907+11dup
ENST00000529957.6:n.864_881+11dup
ENST00000683366.1:c.*538_*555+11dup
ENST00000683887.1:c.854_871+11dup
ENST00000684100.1:n.800_817+11dup
ENST00000684126.1:n.940_957+11dup
ENST00000684688.1:n.1431_1448+11dup
ENST00000204679.9:c.806_823+11dup
ENST00000204679.8:c.806_823+11dup
ENST00000527076.1:n.2029_2046+11dup
ENST00000527168.5:n.973_990+11dup
NM_032520.4:c.806_823+11dup
XM_017023782.1:c.854_871+11dup
XM_017023783.1:c.446_463+11dup
NM_032520.5:c.806_823+11dup