Canonical Allele Identifier: CA2201868954

Gene: IGFALS SPSB3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1790967_1790969delinsGCC , CM000678.2:g.1790967_1790969delinsGCC	GRCh38
NC_000016.9:g.1840968_1840970delinsGCC , CM000678.1:g.1840968_1840970delinsGCC	GRCh37
NC_000016.8:g.1780969_1780971delinsGCC	NCBI36
NG_011778.1:g.7765_7767delinsGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215539.4:c.1449_1451delinsGGC (IGFALS) MANE Select	ENSP00000215539.3:p.Arg483=
ENST00000215539.3:c.1449_1451delinsGGC (IGFALS)	ENSP00000215539.3:p.Arg483=
ENST00000415638.3:c.1563_1565delinsGGC (IGFALS)	ENSP00000416683.3:p.Arg521=
ENST00000569769.1:c.-13+2668_-13+2670delinsGGC (SPSB3)	ENSP00000455098.1:n.-13+2668_-13+2670delinsGGC
NM_001146006.1:c.1563_1565delinsGGC (IGFALS)	NP_001139478.1:p.Arg521=
NM_004970.2:c.1449_1451delinsGGC (IGFALS)	NP_004961.1:p.Arg483=
NR_027389.1:n.1503_1505delinsGGC (IGFALS)
XM_011522476.1:c.1530_1532delinsGGC (IGFALS)	XP_011520778.1:p.Arg510=
NM_001146006.2:c.1563_1565delinsGGC (IGFALS)	NP_001139478.1:p.Arg521=
NM_004970.3:c.1449_1451delinsGGC (IGFALS) MANE Select	NP_004961.1:p.Arg483=