Canonical Allele Identifier: CA2201868759
Gene: IGFALS HGNC NCBI
SPSB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1790875_1790876delinsTC , CM000678.2:g.1790875_1790876delinsTC GRCh38
NC_000016.9:g.1840876_1840877delinsTC , CM000678.1:g.1840876_1840877delinsTC GRCh37
NC_000016.8:g.1780877_1780878delinsTC NCBI36
NG_011778.1:g.7858_7859delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000215539.4:c.1542_1543delinsGA (IGFALS) MANE Select ENSP00000215539.3:p.Arg514=
ENST00000215539.3:c.1542_1543delinsGA (IGFALS) ENSP00000215539.3:p.Arg514=
ENST00000415638.3:c.1656_1657delinsGA (IGFALS) ENSP00000416683.3:p.Arg552=
ENST00000569769.1:c.-13+2761_-13+2762delinsGA (SPSB3) ENSP00000455098.1:n.-13+2761_-13+2762delinsGA
NM_001146006.1:c.1656_1657delinsGA (IGFALS) NP_001139478.1:p.Arg552=
NM_004970.2:c.1542_1543delinsGA (IGFALS) NP_004961.1:p.Arg514=
NR_027389.1:n.1596_1597delinsGA (IGFALS)
XM_011522476.1:c.1623_1624delinsGA (IGFALS) XP_011520778.1:p.Arg541=
NM_001146006.2:c.1656_1657delinsGA (IGFALS) NP_001139478.1:p.Arg552=
NM_004970.3:c.1542_1543delinsGA (IGFALS) MANE Select NP_004961.1:p.Arg514=