Canonical Allele Identifier: CA869827307

Gene: COL4A5

Linked Data

• dbSNP Id: rs1259117711
• gnomAD v3: X-108694705-ATTAATCGGCT-A
• gnomAD v4: X-108694705-ATTAATCGGCT-A
• MyVariant Identifiers: chrX:g.107937936_107937945del (hg19) ; chrX:g.108694706_108694715del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694707_108694716del , CM000685.2:g.108694707_108694716del	GRCh38
NC_000023.10:g.107937937_107937946del , CM000685.1:g.107937937_107937946del	GRCh37
NC_000023.9:g.107824593_107824602del	NCBI36
NG_011977.1:g.259784_259793del
NG_011977.2:g.259784_259793del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4707-100_4707-91del MANE Select	ENSP00000331902.7:n.4707-100_4707-91del
ENST00000361603.7:c.4689-100_4689-91del	ENSP00000354505.2:n.4689-100_4689-91del
ENST00000510690.2:n.1201-100_1201-91del
ENST00000644079.1:n.1093_1102del
ENST00000328300.10:c.4707-100_4707-91del	ENSP00000331902.6:n.4707-100_4707-91del
ENST00000361603.6:c.4689-100_4689-91del	ENSP00000354505.2:n.4689-100_4689-91del
ENST00000504541.1:c.105-100_105-91del	ENSP00000424845.1:n.105-100_105-91del
ENST00000515658.1:c.325-1590_325-1581del
NM_000495.4:c.4689-100_4689-91del	NP_000486.1:n.4689-100_4689-91del
NM_033380.2:c.4707-100_4707-91del	NP_203699.1:n.4707-100_4707-91del
XM_005262070.2:c.4698-100_4698-91del	XP_005262127.1:n.4698-100_4698-91del
XM_006724616.2:c.4707-100_4707-91del	XP_006724679.1:n.4707-100_4707-91del
XM_011530849.1:c.4383-100_4383-91del	XP_011529151.1:n.4383-100_4383-91del
XM_011530851.1:c.2280-100_2280-91del	XP_011529153.1:n.2280-100_2280-91del
XM_011530849.2:c.4722-100_4722-91del	XP_011529151.2:n.4722-100_4722-91del
XM_017029259.2:c.4713-100_4713-91del	XP_016884748.1:n.4713-100_4713-91del
XM_017029260.1:c.4704-100_4704-91del	XP_016884749.1:n.4704-100_4704-91del
XM_017029263.2:c.3042-100_3042-91del	XP_016884752.1:n.3042-100_3042-91del
NM_000495.5:c.4689-100_4689-91del	NP_000486.1:n.4689-100_4689-91del
NM_033380.3:c.4707-100_4707-91del MANE Select	NP_203699.1:n.4707-100_4707-91del