Canonical Allele Identifier: CA686494390

Gene: ST8SIA1

Linked Data

• dbSNP Id: rs1325010304
• gnomAD v3: 12-22413511-AAAAT-A
• gnomAD v4: 12-22413511-AAAAT-A
• MyVariant Identifiers: chr12:g.22566446_22566449del (hg19) ; chr12:g.22413512_22413515del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.22413523_22413526del , CM000674.2:g.22413523_22413526del	GRCh38
NC_000012.11:g.22566457_22566460del , CM000674.1:g.22566457_22566460del	GRCh37
NC_000012.10:g.22457724_22457727del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000536558.5:n.166+23361_166+23364del