Canonical Allele Identifier: CA2201868078
Gene: IGFALS HGNC NCBI
SPSB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1790518_1790527delinsCCTGAGGACA , CM000678.2:g.1790518_1790527delinsCCTGAGGACA GRCh38
NC_000016.9:g.1840519_1840528delinsCCTGAGGACA , CM000678.1:g.1840519_1840528delinsCCTGAGGACA GRCh37
NC_000016.8:g.1780520_1780529delinsCCTGAGGACA NCBI36
NG_011778.1:g.8207_8216delinsTGTCCTCAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000215539.4:c.*73_*82delinsTGTCCTCAGG (IGFALS) MANE Select ENSP00000215539.3:n.*73_*82delinsTGTCCTCAGG
ENST00000215539.3:c.*73_*82delinsTGTCCTCAGG (IGFALS) ENSP00000215539.3:n.*73_*82delinsTGTCCTCAGG
ENST00000415638.3:c.*73_*82delinsTGTCCTCAGG (IGFALS) ENSP00000416683.3:n.*73_*82delinsTGTCCTCAGG
ENST00000569769.1:c.-13+3110_-13+3119delinsTGTCCTCAGG (SPSB3) ENSP00000455098.1:n.-13+3110_-13+3119delinsTGTCCTCAGG
NM_001146006.1:c.*73_*82delinsTGTCCTCAGG (IGFALS) NP_001139478.1:n.*73_*82delinsTGTCCTCAGG
NM_004970.2:c.*73_*82delinsTGTCCTCAGG (IGFALS) NP_004961.1:n.*73_*82delinsTGTCCTCAGG
NR_027389.1:n.1945_1954delinsTGTCCTCAGG (IGFALS)
XM_011522476.1:c.*73_*82delinsTGTCCTCAGG (IGFALS) XP_011520778.1:n.*73_*82delinsTGTCCTCAGG
NM_001146006.2:c.*73_*82delinsTGTCCTCAGG (IGFALS) NP_001139478.1:n.*73_*82delinsTGTCCTCAGG
NM_004970.3:c.*73_*82delinsTGTCCTCAGG (IGFALS) MANE Select NP_004961.1:n.*73_*82delinsTGTCCTCAGG