Canonical Allele Identifier: CA1043282315

Gene: SP110

Linked Data

• dbSNP Id: rs2078352539
• gnomAD v3: 2-230168716-TAATAGG-T
• gnomAD v4: 2-230168716-TAATAGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.230168718_230168723del , CM000664.2:g.230168718_230168723del	GRCh38
NC_000002.11:g.231033434_231033439del , CM000664.1:g.231033434_231033439del	GRCh37
NC_000002.10:g.230741678_230741683del	NCBI36
NG_008295.1:g.56390_56395del , LRG_109:g.56390_56395del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698099.1:c.*77+325_*77+330del	ENSP00000513563.1:n.*77+325_*77+330del
ENST00000698100.1:c.*77+325_*77+330del	ENSP00000513564.1:n.*77+325_*77+330del
ENST00000258381.11:c.*402_*407del MANE Select	ENSP00000258381.6:n.*402_*407del
ENST00000358662.9:c.*402_*407del	ENSP00000351488.4:n.*402_*407del
ENST00000477068.1:n.1296_1301del
XM_006712489.2:c.*402_*407del	XP_006712552.1:n.*402_*407del
XM_005246525.4:c.*402_*407del	XP_005246582.1:n.*402_*407del
XM_006712489.4:c.*402_*407del	XP_006712552.1:n.*402_*407del
XM_011511088.3:c.*402_*407del	XP_011509390.1:n.*402_*407del
XM_011511091.3:c.*402_*407del	XP_011509393.1:n.*402_*407del
XM_024452850.1:c.*402_*407del	XP_024308618.1:n.*402_*407del
NM_004509.4:c.*402_*407del	NP_004500.4:n.*402_*407del
NM_080424.3:c.*402_*407del	NP_536349.3:n.*402_*407del
NM_001378442.1:c.*402_*407del	NP_001365371.1:n.*402_*407del
NM_001378443.1:c.*402_*407del	NP_001365372.1:n.*402_*407del
NM_001378444.1:c.*402_*407del	NP_001365373.1:n.*402_*407del
NM_001378445.1:c.*402_*407del	NP_001365374.1:n.*402_*407del
NM_001378446.1:c.*402_*407del	NP_001365375.1:n.*402_*407del
NM_004509.5:c.*402_*407del	NP_004500.4:n.*402_*407del
NM_080424.4:c.*402_*407del MANE Select	NP_536349.3:n.*402_*407del