Canonical Allele Identifier: CA2843381002
Gene: IGFALS HGNC NCBI
SPSB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1790703dup , CM000678.2:g.1790703dup GRCh38
NC_000016.9:g.1840704dup , CM000678.1:g.1840704dup GRCh37
NC_000016.8:g.1780705dup NCBI36
NG_011778.1:g.8031dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000215539.4:c.1715dup (IGFALS) MANE Select ENSP00000215539.3:p.Pro573AlafsTer?
ENST00000215539.3:c.1715dup (IGFALS) ENSP00000215539.3:p.Pro573AlafsTer?
ENST00000415638.3:c.1829dup (IGFALS) ENSP00000416683.3:p.Pro611AlafsTer?
ENST00000569769.1:c.-13+2934dup (SPSB3) ENSP00000455098.1:n.-13+2934dup
NM_001146006.1:c.1829dup (IGFALS) NP_001139478.1:p.Pro611AlafsTer?
NM_004970.2:c.1715dup (IGFALS) NP_004961.1:p.Pro573AlafsTer?
NR_027389.1:n.1769dup (IGFALS)
XM_011522476.1:c.1796dup (IGFALS) XP_011520778.1:p.Pro600AlafsTer?
NM_001146006.2:c.1829dup (IGFALS) NP_001139478.1:p.Pro611AlafsTer?
NM_004970.3:c.1715dup (IGFALS) MANE Select NP_004961.1:p.Pro573AlafsTer?