Canonical Allele Identifier: CA1043282397

Gene: SP110

Linked Data

• gnomAD v3: 2-230168917-A-ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
• gnomAD v4: 2-230168917-A-ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.230168931_230168932insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000664.2:g.230168931_230168932insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000002.11:g.231033647_231033648insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000664.1:g.231033647_231033648insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000002.10:g.230741891_230741892insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_008295.1:g.56194_56195insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , LRG_109:g.56194_56195insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698099.1:c.*77+129_*77+130insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000513563.1:n.*77+129_*77+130insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000698100.1:c.*77+129_*77+130insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000513564.1:n.*77+129_*77+130insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000258381.11:c.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	ENSP00000258381.6:n.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000358662.9:c.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000351488.4:n.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000477068.1:n.1100_1101insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
XM_005246525.2:c.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_005246582.1:n.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
XM_006712487.2:c.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_006712550.1:n.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
XM_006712489.2:c.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_006712552.1:n.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
XM_011511088.1:c.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_011509390.1:n.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
XM_011511089.1:c.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_011509391.1:n.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
XM_011511090.1:c.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_011509392.1:n.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
XM_011511091.1:c.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_011509393.1:n.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
XM_011511092.1:c.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_011509394.1:n.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
XM_005246525.4:c.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_005246582.1:n.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
XM_006712489.4:c.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_006712552.1:n.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
XM_011511088.3:c.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_011509390.1:n.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
XM_011511091.3:c.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_011509393.1:n.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
XM_024452850.1:c.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_024308618.1:n.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_004509.4:c.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_004500.4:n.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_080424.3:c.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_536349.3:n.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_001378442.1:c.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_001365371.1:n.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_001378443.1:c.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_001365372.1:n.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_001378444.1:c.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_001365373.1:n.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_001378445.1:c.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_001365374.1:n.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_001378446.1:c.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_001365375.1:n.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_004509.5:c.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_004500.4:n.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_080424.4:c.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	NP_536349.3:n.*206_*207insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...