Canonical Allele Identifier: CA643636646

Gene: COL4A5

Linked Data

• dbSNP Id: rs1166196801
• gnomAD v2: X-107909952-CTAG-C
• gnomAD v3: X-108666722-CTAG-C
• gnomAD v4: X-108666722-CTAG-C
• MyVariant Identifiers: chrX:g.107909953_107909955del (hg19) ; chrX:g.108666723_108666725del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108666724_108666726del , CM000685.2:g.108666724_108666726del	GRCh38
NC_000023.10:g.107909954_107909956del , CM000685.1:g.107909954_107909956del	GRCh37
NC_000023.9:g.107796610_107796612del	NCBI36
NG_011977.1:g.231801_231803del
NG_011977.2:g.231801_231803del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.3553+130_3553+132del MANE Select	ENSP00000331902.7:n.3553+130_3553+132del
ENST00000361603.7:c.3553+130_3553+132del	ENSP00000354505.2:n.3553+130_3553+132del
ENST00000328300.10:c.3553+130_3553+132del	ENSP00000331902.6:n.3553+130_3553+132del
ENST00000361603.6:c.3553+130_3553+132del	ENSP00000354505.2:n.3553+130_3553+132del
NM_000495.4:c.3553+130_3553+132del	NP_000486.1:n.3553+130_3553+132del
NM_033380.2:c.3553+130_3553+132del	NP_203699.1:n.3553+130_3553+132del
XM_005262070.2:c.3553+130_3553+132del	XP_005262127.1:n.3553+130_3553+132del
XM_006724616.2:c.3553+130_3553+132del	XP_006724679.1:n.3553+130_3553+132del
XM_011530849.1:c.3229+130_3229+132del	XP_011529151.1:n.3229+130_3229+132del
XM_011530850.1:c.3553+130_3553+132del	XP_011529152.1:n.3553+130_3553+132del
XM_011530851.1:c.1126+130_1126+132del	XP_011529153.1:n.1126+130_1126+132del
XM_011530849.2:c.3568+130_3568+132del	XP_011529151.2:n.3568+130_3568+132del
XM_017029259.2:c.3568+130_3568+132del	XP_016884748.1:n.3568+130_3568+132del
XM_017029260.1:c.3568+130_3568+132del	XP_016884749.1:n.3568+130_3568+132del
XM_017029261.1:c.3568+130_3568+132del	XP_016884750.1:n.3568+130_3568+132del
XM_017029262.2:c.3568+130_3568+132del	XP_016884751.1:n.3568+130_3568+132del
XM_017029263.2:c.1888+130_1888+132del	XP_016884752.1:n.1888+130_1888+132del
NM_000495.5:c.3553+130_3553+132del	NP_000486.1:n.3553+130_3553+132del
NM_033380.3:c.3553+130_3553+132del MANE Select	NP_203699.1:n.3553+130_3553+132del