Canonical Allele Identifier: CA620702423

Gene: IGFALS SPSB3

Linked Data

• dbSNP Id: rs1485872107
• gnomAD v2: 16-1840849-G-GTTC
• gnomAD v4: 16-1790848-G-GTTC
• MyVariant Identifiers: chr16:g.1840849_1840850insTTC (hg19) ; chr16:g.1790848_1790849insTTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1790848_1790849insTTC , CM000678.2:g.1790848_1790849insTTC	GRCh38
NC_000016.9:g.1840849_1840850insTTC , CM000678.1:g.1840849_1840850insTTC	GRCh37
NC_000016.8:g.1780850_1780851insTTC	NCBI36
NG_011778.1:g.7885_7886insGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215539.4:c.1569_1570insGAA (IGFALS) MANE Select	ENSP00000215539.3:p.Pro523_Gln524insGlu
ENST00000215539.3:c.1569_1570insGAA (IGFALS)	ENSP00000215539.3:p.Pro523_Gln524insGlu
ENST00000415638.3:c.1683_1684insGAA (IGFALS)	ENSP00000416683.3:p.Pro561_Gln562insGlu
ENST00000569769.1:c.-13+2788_-13+2789insGAA (SPSB3)	ENSP00000455098.1:n.-13+2788_-13+2789insGAA
NM_001146006.1:c.1683_1684insGAA (IGFALS)	NP_001139478.1:p.Pro561_Gln562insGlu
NM_004970.2:c.1569_1570insGAA (IGFALS)	NP_004961.1:p.Pro523_Gln524insGlu
NR_027389.1:n.1623_1624insGAA (IGFALS)
XM_011522476.1:c.1650_1651insGAA (IGFALS)	XP_011520778.1:p.Pro550_Gln551insGlu
NM_001146006.2:c.1683_1684insGAA (IGFALS)	NP_001139478.1:p.Pro561_Gln562insGlu
NM_004970.3:c.1569_1570insGAA (IGFALS) MANE Select	NP_004961.1:p.Pro523_Gln524insGlu