Canonical Allele Identifier: CA2631055104

Gene: IGFALS SPSB3

Linked Data

• gnomAD v4: 16-1790840-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1790845del , CM000678.2:g.1790845del	GRCh38
NC_000016.9:g.1840846del , CM000678.1:g.1840846del	GRCh37
NC_000016.8:g.1780847del	NCBI36
NG_011778.1:g.7893del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215539.4:c.1577del (IGFALS) MANE Select	ENSP00000215539.3:p.Pro526ArgfsTer?
ENST00000215539.3:c.1577del (IGFALS)	ENSP00000215539.3:p.Pro526ArgfsTer?
ENST00000415638.3:c.1691del (IGFALS)	ENSP00000416683.3:p.Pro564ArgfsTer?
ENST00000569769.1:c.-13+2796del (SPSB3)	ENSP00000455098.1:n.-13+2796del
NM_001146006.1:c.1691del (IGFALS)	NP_001139478.1:p.Pro564ArgfsTer?
NM_004970.2:c.1577del (IGFALS)	NP_004961.1:p.Pro526ArgfsTer?
NR_027389.1:n.1631del (IGFALS)
XM_011522476.1:c.1658del (IGFALS)	XP_011520778.1:p.Pro553ArgfsTer?
NM_001146006.2:c.1691del (IGFALS)	NP_001139478.1:p.Pro564ArgfsTer?
NM_004970.3:c.1577del (IGFALS) MANE Select	NP_004961.1:p.Pro526ArgfsTer?