Canonical Allele Identifier: CA1007570387

Gene: SF3B4

Linked Data

• dbSNP Id: rs2092568896
• gnomAD v3: 1-149923635-ATAGGGTG-A
• gnomAD v4: 1-149923635-ATAGGGTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.149923636_149923642del , CM000663.2:g.149923636_149923642del	GRCh38
NC_000001.10:g.149895528_149895534del , CM000663.1:g.149895528_149895534del	GRCh37
NC_000001.9:g.148162152_148162158del	NCBI36
NG_032777.1:g.9611_9617del

Transcript Alleles

HGVS	Amino-acid change
ENST00000271628.9:c.1175_1181del MANE Select	ENSP00000271628.8:p.Pro392LeufsTer?
ENST00000271628.8:c.1175_1181del	ENSP00000271628.8:p.Pro392LeufsTer?
NM_005850.4:c.1175_1181del	NP_005841.1:p.Pro392LeufsTer?
NM_005850.5:c.1175_1181del MANE Select	NP_005841.1:p.Pro392LeufsTer?