Canonical Allele Identifier: CA1883830905

Gene: SOHLH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135699349_135699355delinsCCTGGGT , CM000671.2:g.135699349_135699355delinsCCTGGGT	GRCh38
NC_000009.11:g.138591195_138591201delinsCCTGGGT , CM000671.1:g.138591195_138591201delinsCCTGGGT	GRCh37
NC_000009.10:g.137731016_137731022delinsCCTGGGT	NCBI36
NG_033070.1:g.2165_2171delinsCCTGGGT
NG_033784.1:g.5174_5180delinsACCCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425225.2:c.65+48_65+54delinsACCCAGG MANE Select	ENSP00000404438.1:n.65+48_65+54delinsACCCAGG
ENST00000674066.1:n.1217-229_1217-223delinsACCCAGG
ENST00000298466.9:c.65+48_65+54delinsACCCAGG	ENSP00000298466.5:n.65+48_65+54delinsACCCAGG
ENST00000425225.1:c.65+48_65+54delinsACCCAGG	ENSP00000404438.1:n.65+48_65+54delinsACCCAGG
NM_001012415.2:c.65+48_65+54delinsACCCAGG	NP_001012415.2:n.65+48_65+54delinsACCCAGG
NM_001101677.1:c.65+48_65+54delinsACCCAGG	NP_001095147.1:n.65+48_65+54delinsACCCAGG
XM_005263403.2:c.65+48_65+54delinsACCCAGG	XP_005263460.1:n.65+48_65+54delinsACCCAGG
XM_006717109.2:c.-139-229_-139-223delinsACCCAGG	XP_006717172.1:n.-139-229_-139-223delinsACCCAGG
XM_011518698.1:c.65+48_65+54delinsACCCAGG	XP_011517000.1:n.65+48_65+54delinsACCCAGG
XM_005263403.3:c.65+48_65+54delinsACCCAGG	XP_005263460.1:n.65+48_65+54delinsACCCAGG
XM_006717109.4:c.-139-229_-139-223delinsACCCAGG	XP_006717172.1:n.-139-229_-139-223delinsACCCAGG
XM_011518698.3:c.65+48_65+54delinsACCCAGG	XP_011517000.1:n.65+48_65+54delinsACCCAGG
XM_024447552.1:c.-139-229_-139-223delinsACCCAGG	XP_024303320.1:n.-139-229_-139-223delinsACCCAGG
NM_001012415.3:c.65+48_65+54delinsACCCAGG	NP_001012415.3:n.65+48_65+54delinsACCCAGG
NM_001101677.2:c.65+48_65+54delinsACCCAGG MANE Select	NP_001095147.2:n.65+48_65+54delinsACCCAGG