Canonical Allele Identifier: CA2692511106

Gene: SOHLH1

Linked Data

• gnomAD v4: 9-135699438-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135699441del , CM000671.2:g.135699441del	GRCh38
NC_000009.11:g.138591287del , CM000671.1:g.138591287del	GRCh37
NC_000009.10:g.137731108del	NCBI36
NG_033070.1:g.2257del
NG_033784.1:g.5090del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425225.2:c.29del MANE Select	ENSP00000404438.1:p.Pro10ArgfsTer?
ENST00000674066.1:n.1217-313del
ENST00000298466.9:c.29del	ENSP00000298466.5:p.Pro10ArgfsTer?
ENST00000425225.1:c.29del	ENSP00000404438.1:p.Pro10ArgfsTer?
NM_001012415.2:c.29del	NP_001012415.2:p.Pro10ArgfsTer?
NM_001101677.1:c.29del	NP_001095147.1:p.Pro10ArgfsTer?
XM_005263403.2:c.29del	XP_005263460.1:p.Pro10ArgfsTer?
XM_006717109.2:c.-139-313del	XP_006717172.1:n.-139-313del
XM_011518698.1:c.29del	XP_011517000.1:p.Pro10ArgfsTer?
XM_005263403.3:c.29del	XP_005263460.1:p.Pro10ArgfsTer?
XM_006717109.4:c.-139-313del	XP_006717172.1:n.-139-313del
XM_011518698.3:c.29del	XP_011517000.1:p.Pro10ArgfsTer?
XM_024447552.1:c.-139-313del	XP_024303320.1:n.-139-313del
NM_001012415.3:c.29del	NP_001012415.3:p.Pro10ArgfsTer?
NM_001101677.2:c.29del MANE Select	NP_001095147.2:p.Pro10ArgfsTer?