Canonical Allele Identifier: CA2201868693
Gene: IGFALS HGNC NCBI
SPSB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1790845_1790847delinsGCT , CM000678.2:g.1790845_1790847delinsGCT GRCh38
NC_000016.9:g.1840846_1840848delinsGCT , CM000678.1:g.1840846_1840848delinsGCT GRCh37
NC_000016.8:g.1780847_1780849delinsGCT NCBI36
NG_011778.1:g.7887_7889delinsAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000215539.4:c.1571_1573delinsAGC (IGFALS) MANE Select ENSP00000215539.3:p.Gln524=
ENST00000215539.3:c.1571_1573delinsAGC (IGFALS) ENSP00000215539.3:p.Gln524=
ENST00000415638.3:c.1685_1687delinsAGC (IGFALS) ENSP00000416683.3:p.Gln562=
ENST00000569769.1:c.-13+2790_-13+2792delinsAGC (SPSB3) ENSP00000455098.1:n.-13+2790_-13+2792delinsAGC
NM_001146006.1:c.1685_1687delinsAGC (IGFALS) NP_001139478.1:p.Gln562=
NM_004970.2:c.1571_1573delinsAGC (IGFALS) NP_004961.1:p.Gln524=
NR_027389.1:n.1625_1627delinsAGC (IGFALS)
XM_011522476.1:c.1652_1654delinsAGC (IGFALS) XP_011520778.1:p.Gln551=
NM_001146006.2:c.1685_1687delinsAGC (IGFALS) NP_001139478.1:p.Gln562=
NM_004970.3:c.1571_1573delinsAGC (IGFALS) MANE Select NP_004961.1:p.Gln524=