Canonical Allele Identifier: CA639116036

Gene: HMGXB4

Linked Data

• dbSNP Id: rs1363685852
• gnomAD v2: 22-35663178-T-TAC
• gnomAD v3: 22-35267185-T-TAC
• gnomAD v4: 22-35267185-T-TAC
• MyVariant Identifiers: chr22:g.35663178_35663179insAC (hg19) ; chr22:g.35267185_35267186insAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.35267195_35267196dup , CM000684.2:g.35267195_35267196dup	GRCh38
NC_000022.10:g.35663188_35663189dup , CM000684.1:g.35663188_35663189dup	GRCh37
NC_000022.9:g.33993188_33993189dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216106.6:c.1215+1592_1215+1593dup MANE Select	ENSP00000216106.5:n.1215+1592_1215+1593dup
ENST00000216106.5:c.1215+1592_1215+1593dup	ENSP00000216106.5:n.1215+1592_1215+1593dup
ENST00000418170.5:c.*1051+1592_*1051+1593dup	ENSP00000395532.1:n.*1051+1592_*1051+1593dup
NM_001003681.2:c.1215+1592_1215+1593dup	NP_001003681.1:n.1215+1592_1215+1593dup
NR_027780.1:n.1504+1592_1504+1593dup
XM_006724100.2:c.1344+1592_1344+1593dup	XP_006724163.1:n.1344+1592_1344+1593dup
XM_006724101.2:c.1344+1592_1344+1593dup	XP_006724164.1:n.1344+1592_1344+1593dup
XM_006724102.1:c.888+1592_888+1593dup	XP_006724165.1:n.888+1592_888+1593dup
XM_011529817.1:c.1215+1592_1215+1593dup	XP_011528119.1:n.1215+1592_1215+1593dup
NM_001362972.1:c.888+1592_888+1593dup	NP_001349901.1:n.888+1592_888+1593dup
XM_006724100.4:c.1344+1592_1344+1593dup	XP_006724163.1:n.1344+1592_1344+1593dup
XM_006724101.4:c.1344+1592_1344+1593dup	XP_006724164.1:n.1344+1592_1344+1593dup
XM_006724102.2:c.888+1592_888+1593dup	XP_006724165.1:n.888+1592_888+1593dup
NM_001003681.3:c.1215+1592_1215+1593dup MANE Select	NP_001003681.1:n.1215+1592_1215+1593dup
NM_001362972.2:c.888+1592_888+1593dup	NP_001349901.1:n.888+1592_888+1593dup
NR_027780.2:n.1463+1592_1463+1593dup