Canonical Allele Identifier: CA907743445

Gene: SHISA5

Linked Data

• dbSNP Id: rs1274292576
• gnomAD v3: 3-48467813-TG-T
• gnomAD v4: 3-48467813-TG-T
• MyVariant Identifiers: chr3:g.48509213del (hg19) ; chr3:g.48467814del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467815del , CM000665.2:g.48467815del	GRCh38
NC_000003.11:g.48509214del , CM000665.1:g.48509214del	GRCh37
NC_000003.10:g.48484218del	NCBI36
NG_009820.1:g.6986del
NG_033100.1:g.38047del
NG_009820.2:g.6986del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296444.6:c.*1293del	ENSP00000296444.2:n.*1293del
ENST00000619810.4:c.*1293del	ENSP00000484992.1:n.*1293del
NM_001272065.1:c.*1293del	NP_001258994.1:n.*1293del
NM_001272066.1:c.*1293del	NP_001258995.1:n.*1293del
NM_001272067.1:c.*1293del	NP_001258996.1:n.*1293del
NM_001272068.1:c.*1293del	NP_001258997.1:n.*1293del
NM_001272082.1:c.*1293del	NP_001259011.1:n.*1293del
NM_001272083.1:c.*1524del	NP_001259012.1:n.*1524del
NM_016479.4:c.*1293del	NP_057563.3:n.*1293del
NM_001272082.2:c.*1293del	NP_001259011.1:n.*1293del
NM_001272083.2:c.*1524del	NP_001259012.1:n.*1524del