Canonical Allele Identifier: CA2692511107

Gene: SOHLH1

Linked Data

• gnomAD v4: 9-135699439-G-GGGTAGGGCTCGGAGCACCGGGACGCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135699440_135699466dup , CM000671.2:g.135699440_135699466dup	GRCh38
NC_000009.11:g.138591286_138591312dup , CM000671.1:g.138591286_138591312dup	GRCh37
NC_000009.10:g.137731107_137731133dup	NCBI36
NG_033070.1:g.2256_2282dup
NG_033784.1:g.5063_5089dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000425225.2:c.2_28dup MANE Select	ENSP00000404438.1:p.Tyr9_Pro10insLeuAlaSerArgCysSerGluProTyr
ENST00000674066.1:n.1217-340_1217-314dup
ENST00000298466.9:c.2_28dup	ENSP00000298466.5:p.Tyr9_Pro10insLeuAlaSerArgCysSerGluProTyr
ENST00000425225.1:c.2_28dup	ENSP00000404438.1:p.Tyr9_Pro10insLeuAlaSerArgCysSerGluProTyr
NM_001012415.2:c.2_28dup	NP_001012415.2:p.Tyr9_Pro10insLeuAlaSerArgCysSerGluProTyr
NM_001101677.1:c.2_28dup	NP_001095147.1:p.Tyr9_Pro10insLeuAlaSerArgCysSerGluProTyr
XM_005263403.2:c.2_28dup	XP_005263460.1:p.Tyr9_Pro10insLeuAlaSerArgCysSerGluProTyr
XM_006717109.2:c.-140+304_-139-314dup	XP_006717172.1:n.-140+304_-139-314dup
XM_011518698.1:c.2_28dup	XP_011517000.1:p.Tyr9_Pro10insLeuAlaSerArgCysSerGluProTyr
XM_005263403.3:c.2_28dup	XP_005263460.1:p.Tyr9_Pro10insLeuAlaSerArgCysSerGluProTyr
XM_006717109.4:c.-140+304_-139-314dup	XP_006717172.1:n.-140+304_-139-314dup
XM_011518698.3:c.2_28dup	XP_011517000.1:p.Tyr9_Pro10insLeuAlaSerArgCysSerGluProTyr
XM_024447552.1:c.-140+304_-139-314dup	XP_024303320.1:n.-140+304_-139-314dup
NM_001012415.3:c.2_28dup	NP_001012415.3:p.Tyr9_Pro10insLeuAlaSerArgCysSerGluProTyr
NM_001101677.2:c.2_28dup MANE Select	NP_001095147.2:p.Tyr9_Pro10insLeuAlaSerArgCysSerGluProTyr