Canonical Allele Identifier: CA639116040

Gene: HMGXB4

Linked Data

• dbSNP Id: rs1359666188
• gnomAD v2: 22-35663188-CATCTGTTT-C
• MyVariant Identifiers: chr22:g.35663189_35663196del (hg19) ; chr22:g.35267196_35267203del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.35267200_35267207del , CM000684.2:g.35267200_35267207del	GRCh38
NC_000022.10:g.35663193_35663200del , CM000684.1:g.35663193_35663200del	GRCh37
NC_000022.9:g.33993193_33993200del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216106.6:c.1215+1597_1215+1604del MANE Select	ENSP00000216106.5:n.1215+1597_1215+1604del
ENST00000216106.5:c.1215+1597_1215+1604del	ENSP00000216106.5:n.1215+1597_1215+1604del
ENST00000418170.5:c.*1051+1597_*1051+1604del	ENSP00000395532.1:n.*1051+1597_*1051+1604del
NM_001003681.2:c.1215+1597_1215+1604del	NP_001003681.1:n.1215+1597_1215+1604del
NR_027780.1:n.1504+1597_1504+1604del
XM_006724100.2:c.1344+1597_1344+1604del	XP_006724163.1:n.1344+1597_1344+1604del
XM_006724101.2:c.1344+1597_1344+1604del	XP_006724164.1:n.1344+1597_1344+1604del
XM_006724102.1:c.888+1597_888+1604del	XP_006724165.1:n.888+1597_888+1604del
XM_011529817.1:c.1215+1597_1215+1604del	XP_011528119.1:n.1215+1597_1215+1604del
NM_001362972.1:c.888+1597_888+1604del	NP_001349901.1:n.888+1597_888+1604del
XM_006724100.4:c.1344+1597_1344+1604del	XP_006724163.1:n.1344+1597_1344+1604del
XM_006724101.4:c.1344+1597_1344+1604del	XP_006724164.1:n.1344+1597_1344+1604del
XM_006724102.2:c.888+1597_888+1604del	XP_006724165.1:n.888+1597_888+1604del
NM_001003681.3:c.1215+1597_1215+1604del MANE Select	NP_001003681.1:n.1215+1597_1215+1604del
NM_001362972.2:c.888+1597_888+1604del	NP_001349901.1:n.888+1597_888+1604del
NR_027780.2:n.1463+1597_1463+1604del