Canonical Allele Identifier: CA686456498

Gene: ST8SIA1

Linked Data

• dbSNP Id: rs1248466715
• gnomAD v3: 12-22212832-ATAGT-A
• gnomAD v4: 12-22212832-ATAGT-A
• MyVariant Identifiers: chr12:g.22365767_22365770del (hg19) ; chr12:g.22212833_22212836del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.22212835_22212838del , CM000674.2:g.22212835_22212838del	GRCh38
NC_000012.11:g.22365769_22365772del , CM000674.1:g.22365769_22365772del	GRCh37
NC_000012.10:g.22257036_22257039del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396037.9:c.585-10798_585-10795del MANE Select	ENSP00000379353.3:n.585-10798_585-10795del
ENST00000261197.7:c.*67-10798_*67-10795del	ENSP00000261197.3:n.*67-10798_*67-10795del
ENST00000396037.8:c.585-10798_585-10795del	ENSP00000379353.3:n.585-10798_585-10795del
ENST00000508924.2:n.188-10798_188-10795del
ENST00000540824.5:c.438-10798_438-10795del	ENSP00000441707.1:n.438-10798_438-10795del
ENST00000544732.5:n.151+36170_151+36173del
ENST00000545494.5:n.306-10798_306-10795del
ENST00000545524.5:n.249+36170_249+36173del
NM_001304450.1:c.156-10798_156-10795del	NP_001291379.1:n.156-10798_156-10795del
NM_003034.3:c.585-10798_585-10795del	NP_003025.1:n.585-10798_585-10795del
XR_931322.1:n.1041+36170_1041+36173del
NM_001304450.2:c.156-10798_156-10795del	NP_001291379.1:n.156-10798_156-10795del
NM_003034.4:c.585-10798_585-10795del MANE Select	NP_003025.1:n.585-10798_585-10795del