Canonical Allele Identifier: CA2575873158

Gene: IGFALS SPSB3

Linked Data

• gnomAD v4: 16-1790563-GGGGGCCTGAGTCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1790569_1790581del , CM000678.2:g.1790569_1790581del	GRCh38
NC_000016.9:g.1840570_1840582del , CM000678.1:g.1840570_1840582del	GRCh37
NC_000016.8:g.1780571_1780583del	NCBI36
NG_011778.1:g.8158_8170del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215539.4:c.*24_*36del (IGFALS) MANE Select	ENSP00000215539.3:n.*24_*36del
ENST00000215539.3:c.*24_*36del (IGFALS)	ENSP00000215539.3:n.*24_*36del
ENST00000415638.3:c.*24_*36del (IGFALS)	ENSP00000416683.3:n.*24_*36del
ENST00000569769.1:c.-13+3061_-13+3073del (SPSB3)	ENSP00000455098.1:n.-13+3061_-13+3073del
NM_001146006.1:c.*24_*36del (IGFALS)	NP_001139478.1:n.*24_*36del
NM_004970.2:c.*24_*36del (IGFALS)	NP_004961.1:n.*24_*36del
NR_027389.1:n.1896_1908del (IGFALS)
XM_011522476.1:c.*24_*36del (IGFALS)	XP_011520778.1:n.*24_*36del
NM_001146006.2:c.*24_*36del (IGFALS)	NP_001139478.1:n.*24_*36del
NM_004970.3:c.*24_*36del (IGFALS) MANE Select	NP_004961.1:n.*24_*36del