Canonical Allele Identifier: CA2695221293

Gene: IGFALS SPSB3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1790869_1790870del , CM000678.2:g.1790869_1790870del	GRCh38
NC_000016.9:g.1840870_1840871del , CM000678.1:g.1840870_1840871del	GRCh37
NC_000016.8:g.1780871_1780872del	NCBI36
NG_011778.1:g.7865_7866del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215539.4:c.1549_1550del (IGFALS) MANE Select	ENSP00000215539.3:p.Ser517ThrfsTer19
ENST00000215539.3:c.1549_1550del (IGFALS)	ENSP00000215539.3:p.Ser517ThrfsTer19
ENST00000415638.3:c.1663_1664del (IGFALS)	ENSP00000416683.3:p.Ser555ThrfsTer19
ENST00000569769.1:c.-13+2768_-13+2769del (SPSB3)	ENSP00000455098.1:n.-13+2768_-13+2769del
NM_001146006.1:c.1663_1664del (IGFALS)	NP_001139478.1:p.Ser555ThrfsTer19
NM_004970.2:c.1549_1550del (IGFALS)	NP_004961.1:p.Ser517ThrfsTer19
NR_027389.1:n.1603_1604del (IGFALS)
XM_011522476.1:c.1630_1631del (IGFALS)	XP_011520778.1:p.Ser544ThrfsTer19
NM_001146006.2:c.1663_1664del (IGFALS)	NP_001139478.1:p.Ser555ThrfsTer19
NM_004970.3:c.1549_1550del (IGFALS) MANE Select	NP_004961.1:p.Ser517ThrfsTer19