Canonical Allele Identifier: CA10487106

Gene: COL4A6

Linked Data

• ClinVar Variation Id: 1408012
• ClinVar RCV Id: RCV001909755
• dbSNP Id: rs751229643
• ExAC: X:107400495 AACAG / A
• gnomAD v2: X-107400495-AACAG-A
• gnomAD v4: X-108157265-AACAG-A
• MyVariant Identifiers: chrX:g.107400496_107400499del (hg19) ; chrX:g.108157266_108157269del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157270_108157273del , CM000685.2:g.108157270_108157273del	GRCh38
NC_000023.10:g.107400500_107400503del , CM000685.1:g.107400500_107400503del	GRCh37
NC_000023.9:g.107287156_107287159del	NCBI36
NG_012059.2:g.287206_287209del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4813-9_4813-6del MANE Select	ENSP00000334733.7:n.4813-9_4813-6del
ENST00000334504.11:c.4813-9_4813-6del	ENSP00000334733.7:n.4813-9_4813-6del
ENST00000372216.8:c.4816-9_4816-6del	ENSP00000361290.4:n.4816-9_4816-6del
ENST00000394872.6:c.4864-9_4864-6del	ENSP00000378340.3:n.4864-9_4864-6del
ENST00000538570.5:c.4642-9_4642-6del	ENSP00000445236.1:n.4642-9_4642-6del
ENST00000545689.2:c.4777-9_4777-6del	ENSP00000443707.2:n.4777-9_4777-6del
ENST00000621266.4:c.4741-9_4741-6del	ENSP00000482970.1:n.4741-9_4741-6del
NM_001287758.1:c.4864-9_4864-6del	NP_001274687.1:n.4864-9_4864-6del
NM_001287759.1:c.4741-9_4741-6del	NP_001274688.1:n.4741-9_4741-6del
NM_001287760.1:c.4642-9_4642-6del	NP_001274689.1:n.4642-9_4642-6del
NM_001847.3:c.4816-9_4816-6del	NP_001838.2:n.4816-9_4816-6del
NM_033641.3:c.4813-9_4813-6del	NP_378667.1:n.4813-9_4813-6del
XM_006724617.2:c.4867-9_4867-6del	XP_006724680.1:n.4867-9_4867-6del
XM_011530852.1:c.4795-9_4795-6del	XP_011529154.1:n.4795-9_4795-6del
XM_011530853.1:c.4783-9_4783-6del	XP_011529155.1:n.4783-9_4783-6del
XM_006724617.3:c.4867-9_4867-6del	XP_006724680.1:n.4867-9_4867-6del
XM_011530852.2:c.4795-9_4795-6del	XP_011529154.1:n.4795-9_4795-6del
XM_011530853.3:c.4783-9_4783-6del	XP_011529155.1:n.4783-9_4783-6del
NM_001847.4:c.4816-9_4816-6del	NP_001838.2:n.4816-9_4816-6del
NM_033641.4:c.4813-9_4813-6del MANE Select	NP_378667.1:n.4813-9_4813-6del
NM_001287758.2:c.4864-9_4864-6del	NP_001274687.1:n.4864-9_4864-6del
NM_001287759.2:c.4741-9_4741-6del	NP_001274688.1:n.4741-9_4741-6del
NM_001287760.2:c.4642-9_4642-6del	NP_001274689.1:n.4642-9_4642-6del