Canonical Allele Identifier: CA1025386838

Gene: HMGXB4

Linked Data

• dbSNP Id: rs1923301833
• gnomAD v3: 22-35267124-CTGTT-C
• gnomAD v4: 22-35267124-CTGTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.35267126_35267129del , CM000684.2:g.35267126_35267129del	GRCh38
NC_000022.10:g.35663119_35663122del , CM000684.1:g.35663119_35663122del	GRCh37
NC_000022.9:g.33993119_33993122del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216106.6:c.1215+1523_1215+1526del MANE Select	ENSP00000216106.5:n.1215+1523_1215+1526del
ENST00000216106.5:c.1215+1523_1215+1526del	ENSP00000216106.5:n.1215+1523_1215+1526del
ENST00000418170.5:c.*1051+1523_*1051+1526del	ENSP00000395532.1:n.*1051+1523_*1051+1526del
NM_001003681.2:c.1215+1523_1215+1526del	NP_001003681.1:n.1215+1523_1215+1526del
NR_027780.1:n.1504+1523_1504+1526del
XM_006724100.2:c.1344+1523_1344+1526del	XP_006724163.1:n.1344+1523_1344+1526del
XM_006724101.2:c.1344+1523_1344+1526del	XP_006724164.1:n.1344+1523_1344+1526del
XM_006724102.1:c.888+1523_888+1526del	XP_006724165.1:n.888+1523_888+1526del
XM_011529817.1:c.1215+1523_1215+1526del	XP_011528119.1:n.1215+1523_1215+1526del
NM_001362972.1:c.888+1523_888+1526del	NP_001349901.1:n.888+1523_888+1526del
XM_006724100.4:c.1344+1523_1344+1526del	XP_006724163.1:n.1344+1523_1344+1526del
XM_006724101.4:c.1344+1523_1344+1526del	XP_006724164.1:n.1344+1523_1344+1526del
XM_006724102.2:c.888+1523_888+1526del	XP_006724165.1:n.888+1523_888+1526del
NM_001003681.3:c.1215+1523_1215+1526del MANE Select	NP_001003681.1:n.1215+1523_1215+1526del
NM_001362972.2:c.888+1523_888+1526del	NP_001349901.1:n.888+1523_888+1526del
NR_027780.2:n.1463+1523_1463+1526del