Canonical Allele Identifier: CA537125892
Gene: GALNT3 HGNC NCBI

Linked Data

dbSNP Id: rs1377586286
gnomAD v2: 2-166604276-AT-A
gnomAD v3: 2-165747766-AT-A
gnomAD v4: 2-165747766-AT-A
MyVariant Identifiers: chr2:g.166604277del (hg19) chr2:g.165747767del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165747770del , CM000664.2:g.165747770del GRCh38
NC_000002.11:g.166604280del , CM000664.1:g.166604280del GRCh37
NC_000002.10:g.166312526del NCBI36
NG_012069.1:g.51527del

Transcript Alleles

HGVS Amino-acid change
ENST00000392701.8:c.*1014del MANE Select ENSP00000376465.3:n.*1014del
ENST00000392701.7:c.*1014del ENSP00000376465.3:n.*1014del
NM_004482.4:c.*1014del MANE Select NP_004473.2:n.*1014del
Search 100 bp 5'
Search 100 bp 3'