Canonical Allele Identifier: CA718688278

Gene: IGFALS SPSB3

Linked Data

• dbSNP Id: rs1314068313
• gnomAD v3: 16-1790495-CCAG-C
• gnomAD v4: 16-1790495-CCAG-C
• MyVariant Identifiers: chr16:g.1840497_1840499del (hg19) ; chr16:g.1790496_1790498del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1790498_1790500del , CM000678.2:g.1790498_1790500del	GRCh38
NC_000016.9:g.1840499_1840501del , CM000678.1:g.1840499_1840501del	GRCh37
NC_000016.8:g.1780500_1780502del	NCBI36
NG_011778.1:g.8236_8238del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215539.4:c.*102_*104del (IGFALS) MANE Select	ENSP00000215539.3:n.*102_*104del
ENST00000215539.3:c.*102_*104del (IGFALS)	ENSP00000215539.3:n.*102_*104del
ENST00000415638.3:c.*102_*104del (IGFALS)	ENSP00000416683.3:n.*102_*104del
ENST00000569769.1:c.-13+3139_-13+3141del (SPSB3)	ENSP00000455098.1:n.-13+3139_-13+3141del
NM_001146006.1:c.*102_*104del (IGFALS)	NP_001139478.1:n.*102_*104del
NM_004970.2:c.*102_*104del (IGFALS)	NP_004961.1:n.*102_*104del
NR_027389.1:n.1974_1976del (IGFALS)
XM_011522476.1:c.*102_*104del (IGFALS)	XP_011520778.1:n.*102_*104del
NM_001146006.2:c.*102_*104del (IGFALS)	NP_001139478.1:n.*102_*104del
NM_004970.3:c.*102_*104del (IGFALS) MANE Select	NP_004961.1:n.*102_*104del