Canonical Allele Identifier: CA2201868064

Gene: IGFALS SPSB3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1790512_1790521delinsCAGGCCCCTG , CM000678.2:g.1790512_1790521delinsCAGGCCCCTG	GRCh38
NC_000016.9:g.1840513_1840522delinsCAGGCCCCTG , CM000678.1:g.1840513_1840522delinsCAGGCCCCTG	GRCh37
NC_000016.8:g.1780514_1780523delinsCAGGCCCCTG	NCBI36
NG_011778.1:g.8213_8222delinsCAGGGGCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215539.4:c.*79_*88delinsCAGGGGCCTG (IGFALS) MANE Select	ENSP00000215539.3:n.*79_*88delinsCAGGGGCCTG
ENST00000215539.3:c.*79_*88delinsCAGGGGCCTG (IGFALS)	ENSP00000215539.3:n.*79_*88delinsCAGGGGCCTG
ENST00000415638.3:c.*79_*88delinsCAGGGGCCTG (IGFALS)	ENSP00000416683.3:n.*79_*88delinsCAGGGGCCTG
ENST00000569769.1:c.-13+3116_-13+3125delinsCAGGGGCCTG (SPSB3)	ENSP00000455098.1:n.-13+3116_-13+3125delinsCAGGGGCCTG
NM_001146006.1:c.*79_*88delinsCAGGGGCCTG (IGFALS)	NP_001139478.1:n.*79_*88delinsCAGGGGCCTG
NM_004970.2:c.*79_*88delinsCAGGGGCCTG (IGFALS)	NP_004961.1:n.*79_*88delinsCAGGGGCCTG
NR_027389.1:n.1951_1960delinsCAGGGGCCTG (IGFALS)
XM_011522476.1:c.*79_*88delinsCAGGGGCCTG (IGFALS)	XP_011520778.1:n.*79_*88delinsCAGGGGCCTG
NM_001146006.2:c.*79_*88delinsCAGGGGCCTG (IGFALS)	NP_001139478.1:n.*79_*88delinsCAGGGGCCTG
NM_004970.3:c.*79_*88delinsCAGGGGCCTG (IGFALS) MANE Select	NP_004961.1:n.*79_*88delinsCAGGGGCCTG