Canonical Allele Identifier: CA644063434

Gene: COL4A6

Linked Data

• dbSNP Id: rs1433936266
• gnomAD v2: X-107400206-AGGGGCAGAGTGGCAG-A
• gnomAD v3: X-108156976-AGGGGCAGAGTGGCAG-A
• gnomAD v4: X-108156976-AGGGGCAGAGTGGCAG-A
• MyVariant Identifiers: chrX:g.107400207_107400221del (hg19) ; chrX:g.108156977_108156991del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108156978_108156992del , CM000685.2:g.108156978_108156992del	GRCh38
NC_000023.10:g.107400208_107400222del , CM000685.1:g.107400208_107400222del	GRCh37
NC_000023.9:g.107286864_107286878del	NCBI36
NG_012059.2:g.287484_287498del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.*9_*23del MANE Select	ENSP00000334733.7:n.*9_*23del
ENST00000334504.11:c.*9_*23del	ENSP00000334733.7:n.*9_*23del
ENST00000372216.8:c.*9_*23del	ENSP00000361290.4:n.*9_*23del
ENST00000394872.6:c.*9_*23del	ENSP00000378340.3:n.*9_*23del
ENST00000538570.5:c.*9_*23del	ENSP00000445236.1:n.*9_*23del
ENST00000545689.2:c.*9_*23del	ENSP00000443707.2:n.*9_*23del
ENST00000621266.4:c.*9_*23del	ENSP00000482970.1:n.*9_*23del
NM_001287758.1:c.*9_*23del	NP_001274687.1:n.*9_*23del
NM_001287759.1:c.*9_*23del	NP_001274688.1:n.*9_*23del
NM_001287760.1:c.*9_*23del	NP_001274689.1:n.*9_*23del
NM_001847.3:c.*9_*23del	NP_001838.2:n.*9_*23del
NM_033641.3:c.*9_*23del	NP_378667.1:n.*9_*23del
XM_006724617.2:c.*9_*23del	XP_006724680.1:n.*9_*23del
XM_011530852.1:c.*9_*23del	XP_011529154.1:n.*9_*23del
XM_011530853.1:c.*9_*23del	XP_011529155.1:n.*9_*23del
XM_006724617.3:c.*9_*23del	XP_006724680.1:n.*9_*23del
XM_011530852.2:c.*9_*23del	XP_011529154.1:n.*9_*23del
XM_011530853.3:c.*9_*23del	XP_011529155.1:n.*9_*23del
NM_001847.4:c.*9_*23del	NP_001838.2:n.*9_*23del
NM_033641.4:c.*9_*23del MANE Select	NP_378667.1:n.*9_*23del
NM_001287758.2:c.*9_*23del	NP_001274687.1:n.*9_*23del
NM_001287759.2:c.*9_*23del	NP_001274688.1:n.*9_*23del
NM_001287760.2:c.*9_*23del	NP_001274689.1:n.*9_*23del