Canonical Allele Identifier: CA2201868073

Gene: IGFALS SPSB3

Linked Data

• dbSNP Id: rs1897192434
• gnomAD v4: 16-1790516-CCCCTGAGGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1790518_1790526del , CM000678.2:g.1790518_1790526del	GRCh38
NC_000016.9:g.1840519_1840527del , CM000678.1:g.1840519_1840527del	GRCh37
NC_000016.8:g.1780520_1780528del	NCBI36
NG_011778.1:g.8209_8217del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215539.4:c.*75_*83del (IGFALS) MANE Select	ENSP00000215539.3:n.*75_*83del
ENST00000215539.3:c.*75_*83del (IGFALS)	ENSP00000215539.3:n.*75_*83del
ENST00000415638.3:c.*75_*83del (IGFALS)	ENSP00000416683.3:n.*75_*83del
ENST00000569769.1:c.-13+3112_-13+3120del (SPSB3)	ENSP00000455098.1:n.-13+3112_-13+3120del
NM_001146006.1:c.*75_*83del (IGFALS)	NP_001139478.1:n.*75_*83del
NM_004970.2:c.*75_*83del (IGFALS)	NP_004961.1:n.*75_*83del
NR_027389.1:n.1947_1955del (IGFALS)
XM_011522476.1:c.*75_*83del (IGFALS)	XP_011520778.1:n.*75_*83del
NM_001146006.2:c.*75_*83del (IGFALS)	NP_001139478.1:n.*75_*83del
NM_004970.3:c.*75_*83del (IGFALS) MANE Select	NP_004961.1:n.*75_*83del