Canonical Allele Identifier: CA973733891

Gene: IGFALS SPSB3

Linked Data

• dbSNP Id: rs1897203818
• gnomAD v3: 16-1790840-C-CG
• gnomAD v4: 16-1790840-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1790845dup , CM000678.2:g.1790845dup	GRCh38
NC_000016.9:g.1840846dup , CM000678.1:g.1840846dup	GRCh37
NC_000016.8:g.1780847dup	NCBI36
NG_011778.1:g.7893dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215539.4:c.1577dup (IGFALS) MANE Select	ENSP00000215539.3:p.Leu528ProfsTer9
ENST00000215539.3:c.1577dup (IGFALS)	ENSP00000215539.3:p.Leu528ProfsTer9
ENST00000415638.3:c.1691dup (IGFALS)	ENSP00000416683.3:p.Leu566ProfsTer9
ENST00000569769.1:c.-13+2796dup (SPSB3)	ENSP00000455098.1:n.-13+2796dup
NM_001146006.1:c.1691dup (IGFALS)	NP_001139478.1:p.Leu566ProfsTer9
NM_004970.2:c.1577dup (IGFALS)	NP_004961.1:p.Leu528ProfsTer9
NR_027389.1:n.1631dup (IGFALS)
XM_011522476.1:c.1658dup (IGFALS)	XP_011520778.1:p.Leu555ProfsTer9
NM_001146006.2:c.1691dup (IGFALS)	NP_001139478.1:p.Leu566ProfsTer9
NM_004970.3:c.1577dup (IGFALS) MANE Select	NP_004961.1:p.Leu528ProfsTer9