Canonical Allele Identifier: CA323502948

Gene: HMGXB4

Linked Data

• dbSNP Id: rs3074343
• gnomAD v3: 22-35267149-TATATA-T
• gnomAD v4: 22-35267149-TATATA-T
• MyVariant Identifiers: chr22:g.35663143_35663147del (hg19) ; chr22:g.35267150_35267154del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.35267155_35267159del , CM000684.2:g.35267155_35267159del	GRCh38
NC_000022.10:g.35663148_35663152del , CM000684.1:g.35663148_35663152del	GRCh37
NC_000022.9:g.33993148_33993152del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216106.6:c.1215+1552_1215+1556del MANE Select	ENSP00000216106.5:n.1215+1552_1215+1556del
ENST00000216106.5:c.1215+1552_1215+1556del	ENSP00000216106.5:n.1215+1552_1215+1556del
ENST00000418170.5:c.*1051+1552_*1051+1556del	ENSP00000395532.1:n.*1051+1552_*1051+1556del
NM_001003681.2:c.1215+1552_1215+1556del	NP_001003681.1:n.1215+1552_1215+1556del
NR_027780.1:n.1504+1552_1504+1556del
XM_006724100.2:c.1344+1552_1344+1556del	XP_006724163.1:n.1344+1552_1344+1556del
XM_006724101.2:c.1344+1552_1344+1556del	XP_006724164.1:n.1344+1552_1344+1556del
XM_006724102.1:c.888+1552_888+1556del	XP_006724165.1:n.888+1552_888+1556del
XM_011529817.1:c.1215+1552_1215+1556del	XP_011528119.1:n.1215+1552_1215+1556del
NM_001362972.1:c.888+1552_888+1556del	NP_001349901.1:n.888+1552_888+1556del
XM_006724100.4:c.1344+1552_1344+1556del	XP_006724163.1:n.1344+1552_1344+1556del
XM_006724101.4:c.1344+1552_1344+1556del	XP_006724164.1:n.1344+1552_1344+1556del
XM_006724102.2:c.888+1552_888+1556del	XP_006724165.1:n.888+1552_888+1556del
NM_001003681.3:c.1215+1552_1215+1556del MANE Select	NP_001003681.1:n.1215+1552_1215+1556del
NM_001362972.2:c.888+1552_888+1556del	NP_001349901.1:n.888+1552_888+1556del
NR_027780.2:n.1463+1552_1463+1556del