Canonical Allele Identifier: CA514323742

Gene: HMGXB4

Linked Data

• dbSNP Id: rs1175957240
• gnomAD v2: 22-35663176-T-TATAC
• gnomAD v3: 22-35267183-T-TATAC
• gnomAD v4: 22-35267183-T-TATAC
• MyVariant Identifiers: chr22:g.35663176_35663177insATAC (hg19) ; chr22:g.35267183_35267184insATAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.35267185_35267188dup , CM000684.2:g.35267185_35267188dup	GRCh38
NC_000022.10:g.35663178_35663181dup , CM000684.1:g.35663178_35663181dup	GRCh37
NC_000022.9:g.33993178_33993181dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216106.6:c.1215+1582_1215+1585dup MANE Select	ENSP00000216106.5:n.1215+1582_1215+1585dup
ENST00000216106.5:c.1215+1582_1215+1585dup	ENSP00000216106.5:n.1215+1582_1215+1585dup
ENST00000418170.5:c.*1051+1582_*1051+1585dup	ENSP00000395532.1:n.*1051+1582_*1051+1585dup
NM_001003681.2:c.1215+1582_1215+1585dup	NP_001003681.1:n.1215+1582_1215+1585dup
NR_027780.1:n.1504+1582_1504+1585dup
XM_006724100.2:c.1344+1582_1344+1585dup	XP_006724163.1:n.1344+1582_1344+1585dup
XM_006724101.2:c.1344+1582_1344+1585dup	XP_006724164.1:n.1344+1582_1344+1585dup
XM_006724102.1:c.888+1582_888+1585dup	XP_006724165.1:n.888+1582_888+1585dup
XM_011529817.1:c.1215+1582_1215+1585dup	XP_011528119.1:n.1215+1582_1215+1585dup
NM_001362972.1:c.888+1582_888+1585dup	NP_001349901.1:n.888+1582_888+1585dup
XM_006724100.4:c.1344+1582_1344+1585dup	XP_006724163.1:n.1344+1582_1344+1585dup
XM_006724101.4:c.1344+1582_1344+1585dup	XP_006724164.1:n.1344+1582_1344+1585dup
XM_006724102.2:c.888+1582_888+1585dup	XP_006724165.1:n.888+1582_888+1585dup
NM_001003681.3:c.1215+1582_1215+1585dup MANE Select	NP_001003681.1:n.1215+1582_1215+1585dup
NM_001362972.2:c.888+1582_888+1585dup	NP_001349901.1:n.888+1582_888+1585dup
NR_027780.2:n.1463+1582_1463+1585dup