Canonical Allele Identifier: CA860968950

Gene: SOHLH1

Linked Data

• dbSNP Id: rs1272806641
• gnomAD v4: 9-135699350-CT-C
• MyVariant Identifiers: chr9:g.138591197del (hg19) ; chr9:g.135699351del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135699351del , CM000671.2:g.135699351del	GRCh38
NC_000009.11:g.138591197del , CM000671.1:g.138591197del	GRCh37
NC_000009.10:g.137731018del	NCBI36
NG_033070.1:g.2167del
NG_033784.1:g.5178del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425225.2:c.65+52del MANE Select	ENSP00000404438.1:n.65+52del
ENST00000674066.1:n.1217-225del
ENST00000298466.9:c.65+52del	ENSP00000298466.5:n.65+52del
ENST00000425225.1:c.65+52del	ENSP00000404438.1:n.65+52del
NM_001012415.2:c.65+52del	NP_001012415.2:n.65+52del
NM_001101677.1:c.65+52del	NP_001095147.1:n.65+52del
XM_005263403.2:c.65+52del	XP_005263460.1:n.65+52del
XM_006717109.2:c.-139-225del	XP_006717172.1:n.-139-225del
XM_011518698.1:c.65+52del	XP_011517000.1:n.65+52del
XM_005263403.3:c.65+52del	XP_005263460.1:n.65+52del
XM_006717109.4:c.-139-225del	XP_006717172.1:n.-139-225del
XM_011518698.3:c.65+52del	XP_011517000.1:n.65+52del
XM_024447552.1:c.-139-225del	XP_024303320.1:n.-139-225del
NM_001012415.3:c.65+52del	NP_001012415.3:n.65+52del
NM_001101677.2:c.65+52del MANE Select	NP_001095147.2:n.65+52del