Canonical Allele Identifier: CA2201868182
Gene: IGFALS HGNC NCBI
SPSB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1790585_1790586delinsAG , CM000678.2:g.1790585_1790586delinsAG GRCh38
NC_000016.9:g.1840586_1840587delinsAG , CM000678.1:g.1840586_1840587delinsAG GRCh37
NC_000016.8:g.1780587_1780588delinsAG NCBI36
NG_011778.1:g.8148_8149delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000215539.4:c.*14_*15delinsCT (IGFALS) MANE Select ENSP00000215539.3:n.*14_*15delinsCT
ENST00000215539.3:c.*14_*15delinsCT (IGFALS) ENSP00000215539.3:n.*14_*15delinsCT
ENST00000415638.3:c.*14_*15delinsCT (IGFALS) ENSP00000416683.3:n.*14_*15delinsCT
ENST00000569769.1:c.-13+3051_-13+3052delinsCT (SPSB3) ENSP00000455098.1:n.-13+3051_-13+3052delinsCT
NM_001146006.1:c.*14_*15delinsCT (IGFALS) NP_001139478.1:n.*14_*15delinsCT
NM_004970.2:c.*14_*15delinsCT (IGFALS) NP_004961.1:n.*14_*15delinsCT
NR_027389.1:n.1886_1887delinsCT (IGFALS)
XM_011522476.1:c.*14_*15delinsCT (IGFALS) XP_011520778.1:n.*14_*15delinsCT
NM_001146006.2:c.*14_*15delinsCT (IGFALS) NP_001139478.1:n.*14_*15delinsCT
NM_004970.3:c.*14_*15delinsCT (IGFALS) MANE Select NP_004961.1:n.*14_*15delinsCT