Canonical Allele Identifier: CA1043282526

Gene: SP110

Linked Data

• gnomAD v3: 2-230168942-TAGAC-T
• gnomAD v4: 2-230168942-TAGAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.230168943_230168946del , CM000664.2:g.230168943_230168946del	GRCh38
NC_000002.11:g.231033659_231033662del , CM000664.1:g.231033659_231033662del	GRCh37
NC_000002.10:g.230741903_230741906del	NCBI36
NG_008295.1:g.56166_56169del , LRG_109:g.56166_56169del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698099.1:c.*77+101_*77+104del	ENSP00000513563.1:n.*77+101_*77+104del
ENST00000698100.1:c.*77+101_*77+104del	ENSP00000513564.1:n.*77+101_*77+104del
ENST00000258381.11:c.*178_*181del MANE Select	ENSP00000258381.6:n.*178_*181del
ENST00000358662.9:c.*178_*181del	ENSP00000351488.4:n.*178_*181del
ENST00000258381.10:c.*178_*181del	ENSP00000258381.6:n.*178_*181del
ENST00000358662.8:c.*178_*181del	ENSP00000351488.4:n.*178_*181del
ENST00000477068.1:n.1072_1075del
ENST00000480916.1:n.571_574del
ENST00000483067.1:n.539_542del
NM_004509.3:c.*178_*181del	NP_004500.3:n.*178_*181del
NM_080424.2:c.*178_*181del , LRG_109t1:c.*178_*181del	NP_536349.2:n.*178_*181del
XM_005246525.2:c.*178_*181del	XP_005246582.1:n.*178_*181del
XM_006712487.2:c.*178_*181del	XP_006712550.1:n.*178_*181del
XM_006712489.2:c.*178_*181del	XP_006712552.1:n.*178_*181del
XM_011511088.1:c.*178_*181del	XP_011509390.1:n.*178_*181del
XM_011511089.1:c.*178_*181del	XP_011509391.1:n.*178_*181del
XM_011511090.1:c.*178_*181del	XP_011509392.1:n.*178_*181del
XM_011511091.1:c.*178_*181del	XP_011509393.1:n.*178_*181del
XM_011511092.1:c.*178_*181del	XP_011509394.1:n.*178_*181del
XM_005246525.4:c.*178_*181del	XP_005246582.1:n.*178_*181del
XM_006712487.3:c.*178_*181del	XP_006712550.1:n.*178_*181del
XM_006712489.4:c.*178_*181del	XP_006712552.1:n.*178_*181del
XM_011511088.3:c.*178_*181del	XP_011509390.1:n.*178_*181del
XM_011511089.3:c.*178_*181del	XP_011509391.1:n.*178_*181del
XM_011511090.3:c.*178_*181del	XP_011509392.1:n.*178_*181del
XM_011511091.3:c.*178_*181del	XP_011509393.1:n.*178_*181del
XM_011511092.3:c.*178_*181del	XP_011509394.1:n.*178_*181del
XM_017003968.2:c.*178_*181del	XP_016859457.1:n.*178_*181del
XM_024452850.1:c.*178_*181del	XP_024308618.1:n.*178_*181del
NM_004509.4:c.*178_*181del	NP_004500.4:n.*178_*181del
NM_080424.3:c.*178_*181del	NP_536349.3:n.*178_*181del
NM_001378442.1:c.*178_*181del	NP_001365371.1:n.*178_*181del
NM_001378443.1:c.*178_*181del	NP_001365372.1:n.*178_*181del
NM_001378444.1:c.*178_*181del	NP_001365373.1:n.*178_*181del
NM_001378445.1:c.*178_*181del	NP_001365374.1:n.*178_*181del
NM_001378446.1:c.*178_*181del	NP_001365375.1:n.*178_*181del
NM_004509.5:c.*178_*181del	NP_004500.4:n.*178_*181del
NM_080424.4:c.*178_*181del MANE Select	NP_536349.3:n.*178_*181del