Canonical Allele Identifier: CA276742327

Gene: IGFALS SPSB3

Linked Data

• dbSNP Id: rs896950387
• gnomAD v2: 16-1840519-CCTGAGGACA-C
• gnomAD v3: 16-1790518-CCTGAGGACA-C
• gnomAD v4: 16-1790518-CCTGAGGACA-C
• MyVariant Identifiers: chr16:g.1840520_1840528del (hg19) ; chr16:g.1790519_1790527del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1790527_1790535del , CM000678.2:g.1790527_1790535del	GRCh38
NC_000016.9:g.1840528_1840536del , CM000678.1:g.1840528_1840536del	GRCh37
NC_000016.8:g.1780529_1780537del	NCBI36
NG_011778.1:g.8207_8215del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215539.4:c.*73_*81del (IGFALS) MANE Select	ENSP00000215539.3:n.*73_*81del
ENST00000215539.3:c.*73_*81del (IGFALS)	ENSP00000215539.3:n.*73_*81del
ENST00000415638.3:c.*73_*81del (IGFALS)	ENSP00000416683.3:n.*73_*81del
ENST00000569769.1:c.-13+3110_-13+3118del (SPSB3)	ENSP00000455098.1:n.-13+3110_-13+3118del
NM_001146006.1:c.*73_*81del (IGFALS)	NP_001139478.1:n.*73_*81del
NM_004970.2:c.*73_*81del (IGFALS)	NP_004961.1:n.*73_*81del
NR_027389.1:n.1945_1953del (IGFALS)
XM_011522476.1:c.*73_*81del (IGFALS)	XP_011520778.1:n.*73_*81del
NM_001146006.2:c.*73_*81del (IGFALS)	NP_001139478.1:n.*73_*81del
NM_004970.3:c.*73_*81del (IGFALS) MANE Select	NP_004961.1:n.*73_*81del