Canonical Allele Identifier: CA518100754

Gene: COL4A6

Linked Data

• dbSNP Id: rs1227004509
• gnomAD v3: X-108157098-TCTC-T
• gnomAD v4: X-108157098-TCTC-T
• MyVariant Identifiers: chrX:g.107400329_107400331del (hg19) ; chrX:g.108157099_108157101del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157103_108157105del , CM000685.2:g.108157103_108157105del	GRCh38
NC_000023.10:g.107400333_107400335del , CM000685.1:g.107400333_107400335del	GRCh37
NC_000023.9:g.107286989_107286991del	NCBI36
NG_012059.2:g.287374_287376del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4972_4974del MANE Select	ENSP00000334733.7:p.Glu1658del
ENST00000334504.11:c.4972_4974del	ENSP00000334733.7:p.Glu1658del
ENST00000372216.8:c.4975_4977del	ENSP00000361290.4:p.Glu1659del
ENST00000394872.6:c.5023_5025del	ENSP00000378340.3:p.Glu1675del
ENST00000538570.5:c.4801_4803del	ENSP00000445236.1:p.Glu1601del
ENST00000545689.2:c.4936_4938del	ENSP00000443707.2:p.Glu1646del
ENST00000621266.4:c.4900_4902del	ENSP00000482970.1:p.Glu1634del
NM_001287758.1:c.5023_5025del	NP_001274687.1:p.Glu1675del
NM_001287759.1:c.4900_4902del	NP_001274688.1:p.Glu1634del
NM_001287760.1:c.4801_4803del	NP_001274689.1:p.Glu1601del
NM_001847.3:c.4975_4977del	NP_001838.2:p.Glu1659del
NM_033641.3:c.4972_4974del	NP_378667.1:p.Glu1658del
XM_006724617.2:c.5026_5028del	XP_006724680.1:p.Glu1676del
XM_011530852.1:c.4954_4956del	XP_011529154.1:p.Glu1652del
XM_011530853.1:c.4942_4944del	XP_011529155.1:p.Glu1648del
XM_006724617.3:c.5026_5028del	XP_006724680.1:p.Glu1676del
XM_011530852.2:c.4954_4956del	XP_011529154.1:p.Glu1652del
XM_011530853.3:c.4942_4944del	XP_011529155.1:p.Glu1648del
NM_001847.4:c.4975_4977del	NP_001838.2:p.Glu1659del
NM_033641.4:c.4972_4974del MANE Select	NP_378667.1:p.Glu1658del
NM_001287758.2:c.5023_5025del	NP_001274687.1:p.Glu1675del
NM_001287759.2:c.4900_4902del	NP_001274688.1:p.Glu1634del
NM_001287760.2:c.4801_4803del	NP_001274689.1:p.Glu1601del