Canonical Allele Identifier: CA2631055074

Gene: IGFALS SPSB3

Linked Data

• gnomAD v4: 16-1790826-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1790828dup , CM000678.2:g.1790828dup	GRCh38
NC_000016.9:g.1840829dup , CM000678.1:g.1840829dup	GRCh37
NC_000016.8:g.1780830dup	NCBI36
NG_011778.1:g.7907dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215539.4:c.1591dup (IGFALS) MANE Select	ENSP00000215539.3:p.Leu531ProfsTer6
ENST00000215539.3:c.1591dup (IGFALS)	ENSP00000215539.3:p.Leu531ProfsTer6
ENST00000415638.3:c.1705dup (IGFALS)	ENSP00000416683.3:p.Leu569ProfsTer6
ENST00000569769.1:c.-13+2810dup (SPSB3)	ENSP00000455098.1:n.-13+2810dup
NM_001146006.1:c.1705dup (IGFALS)	NP_001139478.1:p.Leu569ProfsTer6
NM_004970.2:c.1591dup (IGFALS)	NP_004961.1:p.Leu531ProfsTer6
NR_027389.1:n.1645dup (IGFALS)
XM_011522476.1:c.1672dup (IGFALS)	XP_011520778.1:p.Leu558ProfsTer6
NM_001146006.2:c.1705dup (IGFALS)	NP_001139478.1:p.Leu569ProfsTer6
NM_004970.3:c.1591dup (IGFALS) MANE Select	NP_004961.1:p.Leu531ProfsTer6