Canonical Allele Identifier: CA212881
Gene: GALNT3 HGNC NCBI

Linked Data

ClinVar Variation Id: 7800
ClinVar RCV Id: RCV000008243
dbSNP Id: rs766750282
ExAC: 2:166618449 T / TG
gnomAD v2: 2-166618449-T-TG
gnomAD v3: 2-165761939-T-TG
gnomAD v4: 2-165761939-T-TG
MyVariant Identifiers: chr2:g.166618450dupG (hg19) chr2:g.166618449_166618450insG (hg19) chr2:g.165761940dupG (hg38) chr2:g.165761939_165761940insG (hg38)
PubMed: PMID:17311862
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165761940dup , CM000664.2:g.165761940dup GRCh38
NC_000002.11:g.166618450dup , CM000664.1:g.166618450dup GRCh37
NC_000002.10:g.166326696dup NCBI36
NG_012069.1:g.37354dup

Transcript Alleles

HGVS Amino-acid change
ENST00000392701.8:c.803dup MANE Select ENSP00000376465.3:p.Thr269AsnfsTer3
ENST00000392701.7:c.803dup ENSP00000376465.3:p.Thr269AsnfsTer3
ENST00000412248.5:c.803dup ENSP00000412643.1:p.Thr269AsnfsTer3
ENST00000437849.1:c.191dup ENSP00000391104.1:p.Thr65AsnfsTer3
ENST00000463254.1:n.86dup
NM_004482.3:c.803dup NP_004473.2:p.Thr269AsnfsTer3
XM_005246449.1:c.803dup XP_005246506.1:p.Thr269AsnfsTer3
XM_006712402.2:c.803dup XP_006712465.1:p.Thr269AsnfsTer3
XM_011510929.1:c.803dup XP_011509231.1:p.Thr269AsnfsTer3
XM_017003770.1:c.803dup XP_016859259.1:p.Thr269AsnfsTer3
XR_002959253.1:n.1144dup
NM_004482.4:c.803dup MANE Select NP_004473.2:p.Thr269AsnfsTer3
Search 100 bp 5'
Search 100 bp 3'