Canonical Allele Identifier: CA2519813822

Gene: IGFALS SPSB3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1790898dup , CM000678.2:g.1790898dup	GRCh38
NC_000016.9:g.1840899dup , CM000678.1:g.1840899dup	GRCh37
NC_000016.8:g.1780900dup	NCBI36
NG_011778.1:g.7837dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215539.4:c.1521dup (IGFALS) MANE Select	ENSP00000215539.3:p.Leu508AlafsTer29
ENST00000215539.3:c.1521dup (IGFALS)	ENSP00000215539.3:p.Leu508AlafsTer29
ENST00000415638.3:c.1635dup (IGFALS)	ENSP00000416683.3:p.Leu546AlafsTer29
ENST00000569769.1:c.-13+2740dup (SPSB3)	ENSP00000455098.1:n.-13+2740dup
NM_001146006.1:c.1635dup (IGFALS)	NP_001139478.1:p.Leu546AlafsTer29
NM_004970.2:c.1521dup (IGFALS)	NP_004961.1:p.Leu508AlafsTer29
NR_027389.1:n.1575dup (IGFALS)
XM_011522476.1:c.1602dup (IGFALS)	XP_011520778.1:p.Leu535AlafsTer29
NM_001146006.2:c.1635dup (IGFALS)	NP_001139478.1:p.Leu546AlafsTer29
NM_004970.3:c.1521dup (IGFALS) MANE Select	NP_004961.1:p.Leu508AlafsTer29