Canonical Allele Identifier: CA10488760

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1596930
• ClinVar RCV Id: RCV002105660
• dbSNP Id: rs754130339
• ExAC: X:107840209 T / TTG
• gnomAD v2: X-107840209-T-TTG
• gnomAD v3: X-108596979-T-TTG
• gnomAD v4: X-108596979-T-TTG
• MyVariant Identifiers: chrX:g.107840211_107840212insTG (hg19) ; chrX:g.107840209_107840210insTG (hg19) ; chrX:g.108596981_108596982insTG (hg38) ; chrX:g.108596979_108596980insTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108596993_108596994dup , CM000685.2:g.108596993_108596994dup	GRCh38
NC_000023.10:g.107840223_107840224dup , CM000685.1:g.107840223_107840224dup	GRCh37
NC_000023.9:g.107726879_107726880dup	NCBI36
NG_011977.1:g.162070_162071dup
NG_011977.2:g.162070_162071dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.1517-5_1517-4dup MANE Select	ENSP00000331902.7:n.1517-5_1517-4dup
ENST00000361603.7:c.1517-5_1517-4dup	ENSP00000354505.2:n.1517-5_1517-4dup
ENST00000328300.10:c.1517-5_1517-4dup	ENSP00000331902.6:n.1517-5_1517-4dup
ENST00000361603.6:c.1517-5_1517-4dup	ENSP00000354505.2:n.1517-5_1517-4dup
ENST00000483338.1:n.973-5_973-4dup
NM_000495.4:c.1517-5_1517-4dup	NP_000486.1:n.1517-5_1517-4dup
NM_033380.2:c.1517-5_1517-4dup	NP_203699.1:n.1517-5_1517-4dup
XM_005262070.2:c.1517-5_1517-4dup	XP_005262127.1:n.1517-5_1517-4dup
XM_005262072.3:c.1517-5_1517-4dup	XP_005262129.1:n.1517-5_1517-4dup
XM_006724616.2:c.1517-5_1517-4dup	XP_006724679.1:n.1517-5_1517-4dup
XM_011530849.1:c.1193-5_1193-4dup	XP_011529151.1:n.1193-5_1193-4dup
XM_011530850.1:c.1517-5_1517-4dup	XP_011529152.1:n.1517-5_1517-4dup
XM_011530849.2:c.1532-5_1532-4dup	XP_011529151.2:n.1532-5_1532-4dup
XM_017029259.2:c.1532-5_1532-4dup	XP_016884748.1:n.1532-5_1532-4dup
XM_017029260.1:c.1532-5_1532-4dup	XP_016884749.1:n.1532-5_1532-4dup
XM_017029261.1:c.1532-5_1532-4dup	XP_016884750.1:n.1532-5_1532-4dup
XM_017029262.2:c.1532-5_1532-4dup	XP_016884751.1:n.1532-5_1532-4dup
XM_017029263.2:c.-149-5_-149-4dup	XP_016884752.1:n.-149-5_-149-4dup
NM_000495.5:c.1517-5_1517-4dup	NP_000486.1:n.1517-5_1517-4dup
NM_033380.3:c.1517-5_1517-4dup MANE Select	NP_203699.1:n.1517-5_1517-4dup