Canonical Allele Identifier: CA1883830906
Gene: SOHLH1 HGNC NCBI

Linked Data

dbSNP Id: rs1834944911

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135699350_135699355del , CM000671.2:g.135699350_135699355del GRCh38
NC_000009.11:g.138591196_138591201del , CM000671.1:g.138591196_138591201del GRCh37
NC_000009.10:g.137731017_137731022del NCBI36
NG_033070.1:g.2166_2171del
NG_033784.1:g.5174_5179del

Transcript Alleles

HGVS Amino-acid change
ENST00000425225.2:c.65+48_65+53del MANE Select ENSP00000404438.1:n.65+48_65+53del
ENST00000674066.1:n.1217-229_1217-224del
ENST00000298466.9:c.65+48_65+53del ENSP00000298466.5:n.65+48_65+53del
ENST00000425225.1:c.65+48_65+53del ENSP00000404438.1:n.65+48_65+53del
NM_001012415.2:c.65+48_65+53del NP_001012415.2:n.65+48_65+53del
NM_001101677.1:c.65+48_65+53del NP_001095147.1:n.65+48_65+53del
XM_005263403.2:c.65+48_65+53del XP_005263460.1:n.65+48_65+53del
XM_006717109.2:c.-139-229_-139-224del XP_006717172.1:n.-139-229_-139-224del
XM_011518698.1:c.65+48_65+53del XP_011517000.1:n.65+48_65+53del
XM_005263403.3:c.65+48_65+53del XP_005263460.1:n.65+48_65+53del
XM_006717109.4:c.-139-229_-139-224del XP_006717172.1:n.-139-229_-139-224del
XM_011518698.3:c.65+48_65+53del XP_011517000.1:n.65+48_65+53del
XM_024447552.1:c.-139-229_-139-224del XP_024303320.1:n.-139-229_-139-224del
NM_001012415.3:c.65+48_65+53del NP_001012415.3:n.65+48_65+53del
NM_001101677.2:c.65+48_65+53del MANE Select NP_001095147.2:n.65+48_65+53del