Canonical Allele Identifier: CA2663754394

Gene: SH3BP4

Linked Data

• gnomAD v4: 2-235052593-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.235052595del , CM000664.2:g.235052595del	GRCh38
NC_000002.11:g.235961239del , CM000664.1:g.235961239del	GRCh37
NC_000002.10:g.235625978del	NCBI36
NG_033930.1:g.105612del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392011.7:c.2512del MANE Select	ENSP00000375867.2:p.Val838SerfsTer10
ENST00000344528.8:c.2512del	ENSP00000340237.4:p.Val838SerfsTer10
ENST00000392011.6:c.2512del	ENSP00000375867.2:p.Val838SerfsTer10
ENST00000409212.5:c.2512del	ENSP00000386862.1:p.Val838SerfsTer10
NM_014521.2:c.2512del	NP_055336.1:p.Val838SerfsTer10
XM_011510891.1:c.2512del	XP_011509193.1:p.Val838SerfsTer10
XM_011510892.1:c.2512del	XP_011509194.1:p.Val838SerfsTer10
XM_011510893.1:c.2512del	XP_011509195.1:p.Val838SerfsTer10
XM_011510894.1:c.2512del	XP_011509196.1:p.Val838SerfsTer10
XM_011510891.2:c.2512del	XP_011509193.1:p.Val838SerfsTer10
XM_011510894.2:c.2512del	XP_011509196.1:p.Val838SerfsTer10
NM_014521.3:c.2512del MANE Select	NP_055336.1:p.Val838SerfsTer10
NM_001371302.1:c.2512del	NP_001358231.1:p.Val838SerfsTer10
NM_001371303.1:c.2512del	NP_001358232.1:p.Val838SerfsTer10
NM_001371304.1:c.2512del	NP_001358233.1:p.Val838SerfsTer10
NM_001371305.1:c.2512del	NP_001358234.1:p.Val838SerfsTer10
NM_001371306.1:c.2512del	NP_001358235.1:p.Val838SerfsTer10