Canonical Allele Identifier: CA766410861

Gene: SH3BP4

Linked Data

• dbSNP Id: rs1483870306
• gnomAD v4: 2-235052475-TCCTGCGCCGTCTGCTGGAATTCTGCGGGGAGCAGAG-T
• MyVariant Identifiers: chr2:g.235961120_235961155del (hg19) ; chr2:g.235052476_235052511del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.235052481_235052516del , CM000664.2:g.235052481_235052516del	GRCh38
NC_000002.11:g.235961125_235961160del , CM000664.1:g.235961125_235961160del	GRCh37
NC_000002.10:g.235625864_235625899del	NCBI36
NG_033930.1:g.105498_105533del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392011.7:c.2479-81_2479-46del MANE Select	ENSP00000375867.2:n.2479-81_2479-46del
ENST00000344528.8:c.2479-81_2479-46del	ENSP00000340237.4:n.2479-81_2479-46del
ENST00000392011.6:c.2479-81_2479-46del	ENSP00000375867.2:n.2479-81_2479-46del
ENST00000409212.5:c.2479-81_2479-46del	ENSP00000386862.1:n.2479-81_2479-46del
NM_014521.2:c.2479-81_2479-46del	NP_055336.1:n.2479-81_2479-46del
XM_011510891.1:c.2479-81_2479-46del	XP_011509193.1:n.2479-81_2479-46del
XM_011510892.1:c.2479-81_2479-46del	XP_011509194.1:n.2479-81_2479-46del
XM_011510893.1:c.2479-81_2479-46del	XP_011509195.1:n.2479-81_2479-46del
XM_011510894.1:c.2479-81_2479-46del	XP_011509196.1:n.2479-81_2479-46del
XM_011510891.2:c.2479-81_2479-46del	XP_011509193.1:n.2479-81_2479-46del
XM_011510894.2:c.2479-81_2479-46del	XP_011509196.1:n.2479-81_2479-46del
NM_014521.3:c.2479-81_2479-46del MANE Select	NP_055336.1:n.2479-81_2479-46del
NM_001371302.1:c.2479-81_2479-46del	NP_001358231.1:n.2479-81_2479-46del
NM_001371303.1:c.2479-81_2479-46del	NP_001358232.1:n.2479-81_2479-46del
NM_001371304.1:c.2479-81_2479-46del	NP_001358233.1:n.2479-81_2479-46del
NM_001371305.1:c.2479-81_2479-46del	NP_001358234.1:n.2479-81_2479-46del
NM_001371306.1:c.2479-81_2479-46del	NP_001358235.1:n.2479-81_2479-46del