Canonical Allele Identifier: CA517988732

Gene: COL4A5

Linked Data

• dbSNP Id: rs1173562255
• gnomAD v2: X-107683188-C-CT
• gnomAD v3: X-108439958-C-CT
• gnomAD v4: X-108439958-C-CT
• COSMIC: COSN20056805
• MyVariant Identifiers: chrX:g.107683189_107683190insT (hg19) ; chrX:g.107683188_107683189insT (hg19) ; chrX:g.108439959_108439960insT (hg38) ; chrX:g.108439958_108439959insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108439968dup , CM000685.2:g.108439968dup	GRCh38
NC_000023.10:g.107683198dup , CM000685.1:g.107683198dup	GRCh37
NC_000023.9:g.107569854dup	NCBI36
NG_011977.1:g.5045dup
NG_012059.2:g.4516dup
NG_011977.2:g.5045dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.-158dup MANE Select	ENSP00000331902.7:n.-158dup
ENST00000361603.7:c.-158dup	ENSP00000354505.2:n.-158dup
ENST00000642185.1:c.-158dup	ENSP00000495101.1:n.-158dup
ENST00000328300.10:c.-158dup	ENSP00000331902.6:n.-158dup
ENST00000361603.6:c.-158dup	ENSP00000354505.2:n.-158dup
ENST00000470339.1:n.27dup
ENST00000477429.1:n.125dup
NM_000495.4:c.-158dup	NP_000486.1:n.-158dup
NM_033380.2:c.-158dup	NP_203699.1:n.-158dup
XM_005262070.2:c.-158dup	XP_005262127.1:n.-158dup
XM_005262072.3:c.-158dup	XP_005262129.1:n.-158dup
XM_006724616.2:c.-120-38dup	XP_006724679.1:n.-120-38dup
XM_011530850.1:c.-158dup	XP_011529152.1:n.-158dup
NM_000495.5:c.-158dup	NP_000486.1:n.-158dup
NM_033380.3:c.-158dup MANE Select	NP_203699.1:n.-158dup