Canonical Allele Identifier: CA539929894

Gene: SP110

Linked Data

• dbSNP Id: rs1195498117
• gnomAD v2: 2-231042203-TCTC-T
• gnomAD v4: 2-230177487-TCTC-T
• MyVariant Identifiers: chr2:g.231042204_231042206del (hg19) ; chr2:g.230177488_230177490del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.230177490_230177492del , CM000664.2:g.230177490_230177492del	GRCh38
NC_000002.11:g.231042206_231042208del , CM000664.1:g.231042206_231042208del	GRCh37
NC_000002.10:g.230750450_230750452del	NCBI36
NG_008295.1:g.47622_47624del , LRG_109:g.47622_47624del

Transcript Alleles

HGVS	Amino-acid change
ENST00000462232.2:c.981+48_981+50del	ENSP00000513566.1:n.981+48_981+50del
ENST00000489597.2:c.*39_*41del	ENSP00000513565.1:n.*39_*41del
ENST00000698099.1:c.1590+48_1590+50del	ENSP00000513563.1:n.1590+48_1590+50del
ENST00000698100.1:c.1440+48_1440+50del	ENSP00000513564.1:n.1440+48_1440+50del
ENST00000698101.1:n.360_362del
ENST00000698102.1:n.2454_2456del
ENST00000698103.1:c.*39_*41del	ENSP00000513567.1:n.*39_*41del
ENST00000258381.11:c.1590+48_1590+50del MANE Select	ENSP00000258381.6:n.1590+48_1590+50del
ENST00000258382.10:c.1590+48_1590+50del	ENSP00000258382.5:n.1590+48_1590+50del
ENST00000358662.9:c.1590+48_1590+50del	ENSP00000351488.4:n.1590+48_1590+50del
ENST00000540870.5:c.1608+48_1608+50del	ENSP00000439558.1:n.1608+48_1608+50del
ENST00000258381.10:c.1590+48_1590+50del	ENSP00000258381.6:n.1590+48_1590+50del
ENST00000258382.9:c.1590+48_1590+50del	ENSP00000258382.5:n.1590+48_1590+50del
ENST00000358662.8:c.1590+48_1590+50del	ENSP00000351488.4:n.1590+48_1590+50del
ENST00000392048.7:c.1584+48_1584+50del	ENSP00000375902.3:n.1584+48_1584+50del
ENST00000489597.1:n.292_294del
ENST00000540870.4:c.1608+48_1608+50del	ENSP00000439558.1:n.1608+48_1608+50del
NM_001185015.1:c.1608+48_1608+50del	NP_001171944.1:n.1608+48_1608+50del
NM_004509.3:c.1590+48_1590+50del	NP_004500.3:n.1590+48_1590+50del
NM_004510.3:c.1590+48_1590+50del	NP_004501.3:n.1590+48_1590+50del
NM_080424.2:c.1590+48_1590+50del , LRG_109t1:c.1590+48_1590+50del	NP_536349.2:n.1590+48_1590+50del
XM_005246525.2:c.1608+48_1608+50del	XP_005246582.1:n.1608+48_1608+50del
XM_006712487.2:c.1608+48_1608+50del	XP_006712550.1:n.1608+48_1608+50del
XM_006712489.2:c.1608+48_1608+50del	XP_006712552.1:n.1608+48_1608+50del
XM_011511088.1:c.1608+48_1608+50del	XP_011509390.1:n.1608+48_1608+50del
XM_011511089.1:c.1590+48_1590+50del	XP_011509391.1:n.1590+48_1590+50del
XM_011511090.1:c.1458+48_1458+50del	XP_011509392.1:n.1458+48_1458+50del
XM_011511091.1:c.1608+48_1608+50del	XP_011509393.1:n.1608+48_1608+50del
XM_011511092.1:c.981+48_981+50del	XP_011509394.1:n.981+48_981+50del
XM_005246525.4:c.1608+48_1608+50del	XP_005246582.1:n.1608+48_1608+50del
XM_006712487.3:c.1608+48_1608+50del	XP_006712550.1:n.1608+48_1608+50del
XM_006712489.4:c.1608+48_1608+50del	XP_006712552.1:n.1608+48_1608+50del
XM_011511088.3:c.1608+48_1608+50del	XP_011509390.1:n.1608+48_1608+50del
XM_011511089.3:c.1590+48_1590+50del	XP_011509391.1:n.1590+48_1590+50del
XM_011511090.3:c.1458+48_1458+50del	XP_011509392.1:n.1458+48_1458+50del
XM_011511091.3:c.1608+48_1608+50del	XP_011509393.1:n.1608+48_1608+50del
XM_011511092.3:c.981+48_981+50del	XP_011509394.1:n.981+48_981+50del
XM_017003968.2:c.1608+48_1608+50del	XP_016859457.1:n.1608+48_1608+50del
XM_017003969.1:c.1458+48_1458+50del	XP_016859458.1:n.1458+48_1458+50del
XM_024452850.1:c.1458+48_1458+50del	XP_024308618.1:n.1458+48_1458+50del
XM_024452851.1:c.1440+48_1440+50del	XP_024308619.1:n.1440+48_1440+50del
NM_001185015.2:c.1608+48_1608+50del	NP_001171944.1:n.1608+48_1608+50del
NM_004509.4:c.1590+48_1590+50del	NP_004500.4:n.1590+48_1590+50del
NM_004510.4:c.1590+48_1590+50del	NP_004501.4:n.1590+48_1590+50del
NM_080424.3:c.1590+48_1590+50del	NP_536349.3:n.1590+48_1590+50del
NM_001378442.1:c.1608+48_1608+50del	NP_001365371.1:n.1608+48_1608+50del
NM_001378443.1:c.1590+48_1590+50del	NP_001365372.1:n.1590+48_1590+50del
NM_001378444.1:c.1608+48_1608+50del	NP_001365373.1:n.1608+48_1608+50del
NM_001378445.1:c.1608+48_1608+50del	NP_001365374.1:n.1608+48_1608+50del
NM_001378446.1:c.1608+48_1608+50del	NP_001365375.1:n.1608+48_1608+50del
NM_001378447.1:c.1440+48_1440+50del	NP_001365376.1:n.1440+48_1440+50del
NM_004509.5:c.1590+48_1590+50del	NP_004500.4:n.1590+48_1590+50del
NM_080424.4:c.1590+48_1590+50del MANE Select	NP_536349.3:n.1590+48_1590+50del