Canonical Allele Identifier: CA2201868069

Gene: IGFALS SPSB3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1790516_1790525delinsCCCCTGAGGA , CM000678.2:g.1790516_1790525delinsCCCCTGAGGA	GRCh38
NC_000016.9:g.1840517_1840526delinsCCCCTGAGGA , CM000678.1:g.1840517_1840526delinsCCCCTGAGGA	GRCh37
NC_000016.8:g.1780518_1780527delinsCCCCTGAGGA	NCBI36
NG_011778.1:g.8209_8218delinsTCCTCAGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215539.4:c.*75_*84delinsTCCTCAGGGG (IGFALS) MANE Select	ENSP00000215539.3:n.*75_*84delinsTCCTCAGGGG
ENST00000215539.3:c.*75_*84delinsTCCTCAGGGG (IGFALS)	ENSP00000215539.3:n.*75_*84delinsTCCTCAGGGG
ENST00000415638.3:c.*75_*84delinsTCCTCAGGGG (IGFALS)	ENSP00000416683.3:n.*75_*84delinsTCCTCAGGGG
ENST00000569769.1:c.-13+3112_-13+3121delinsTCCTCAGGGG (SPSB3)	ENSP00000455098.1:n.-13+3112_-13+3121delinsTCCTCAGGGG
NM_001146006.1:c.*75_*84delinsTCCTCAGGGG (IGFALS)	NP_001139478.1:n.*75_*84delinsTCCTCAGGGG
NM_004970.2:c.*75_*84delinsTCCTCAGGGG (IGFALS)	NP_004961.1:n.*75_*84delinsTCCTCAGGGG
NR_027389.1:n.1947_1956delinsTCCTCAGGGG (IGFALS)
XM_011522476.1:c.*75_*84delinsTCCTCAGGGG (IGFALS)	XP_011520778.1:n.*75_*84delinsTCCTCAGGGG
NM_001146006.2:c.*75_*84delinsTCCTCAGGGG (IGFALS)	NP_001139478.1:n.*75_*84delinsTCCTCAGGGG
NM_004970.3:c.*75_*84delinsTCCTCAGGGG (IGFALS) MANE Select	NP_004961.1:n.*75_*84delinsTCCTCAGGGG