Canonical Allele Identifier: CA334033948

Gene: COL4A6

Linked Data

• ClinVar Variation Id: 2796383
• ClinVar RCV Id: RCV003668166
• dbSNP Id: rs1010718048
• gnomAD v3: X-108157191-G-GA
• gnomAD v4: X-108157191-G-GA
• MyVariant Identifiers: chrX:g.107400421_107400422insA (hg19) ; chrX:g.108157191_108157192insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157194dup , CM000685.2:g.108157194dup	GRCh38
NC_000023.10:g.107400424dup , CM000685.1:g.107400424dup	GRCh37
NC_000023.9:g.107287080dup	NCBI36
NG_012059.2:g.287283dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4881dup MANE Select	ENSP00000334733.7:p.Arg1628SerfsTer?
ENST00000334504.11:c.4881dup	ENSP00000334733.7:p.Arg1628SerfsTer?
ENST00000372216.8:c.4884dup	ENSP00000361290.4:p.Arg1629SerfsTer?
ENST00000394872.6:c.4932dup	ENSP00000378340.3:p.Arg1645SerfsTer?
ENST00000538570.5:c.4710dup	ENSP00000445236.1:p.Arg1571SerfsTer?
ENST00000545689.2:c.4845dup	ENSP00000443707.2:p.Arg1616SerfsTer?
ENST00000621266.4:c.4809dup	ENSP00000482970.1:p.Arg1604SerfsTer?
NM_001287758.1:c.4932dup	NP_001274687.1:p.Arg1645SerfsTer?
NM_001287759.1:c.4809dup	NP_001274688.1:p.Arg1604SerfsTer?
NM_001287760.1:c.4710dup	NP_001274689.1:p.Arg1571SerfsTer?
NM_001847.3:c.4884dup	NP_001838.2:p.Arg1629SerfsTer?
NM_033641.3:c.4881dup	NP_378667.1:p.Arg1628SerfsTer?
XM_006724617.2:c.4935dup	XP_006724680.1:p.Arg1646SerfsTer?
XM_011530852.1:c.4863dup	XP_011529154.1:p.Arg1622SerfsTer?
XM_011530853.1:c.4851dup	XP_011529155.1:p.Arg1618SerfsTer?
XM_006724617.3:c.4935dup	XP_006724680.1:p.Arg1646SerfsTer?
XM_011530852.2:c.4863dup	XP_011529154.1:p.Arg1622SerfsTer?
XM_011530853.3:c.4851dup	XP_011529155.1:p.Arg1618SerfsTer?
NM_001847.4:c.4884dup	NP_001838.2:p.Arg1629SerfsTer?
NM_033641.4:c.4881dup MANE Select	NP_378667.1:p.Arg1628SerfsTer?
NM_001287758.2:c.4932dup	NP_001274687.1:p.Arg1645SerfsTer?
NM_001287759.2:c.4809dup	NP_001274688.1:p.Arg1604SerfsTer?
NM_001287760.2:c.4710dup	NP_001274689.1:p.Arg1571SerfsTer?