Canonical Allele Identifier: CA869800848

Gene: COL4A5

Linked Data

• dbSNP Id: rs546815968
• gnomAD v3: X-108439945-C-CCTT
• gnomAD v4: X-108439945-C-CCTT
• MyVariant Identifiers: chrX:g.107683175_107683176insCTT (hg19) ; chrX:g.108439945_108439946insCTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108439958_108439960dup , CM000685.2:g.108439958_108439960dup	GRCh38
NC_000023.10:g.107683188_107683190dup , CM000685.1:g.107683188_107683190dup	GRCh37
NC_000023.9:g.107569844_107569846dup	NCBI36
NG_011977.1:g.5035_5037dup
NG_012059.2:g.4527_4529dup
NG_011977.2:g.5035_5037dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.-168_-166dup MANE Select	ENSP00000331902.7:n.-168_-166dup
ENST00000361603.7:c.-168_-166dup	ENSP00000354505.2:n.-168_-166dup
ENST00000642185.1:c.-168_-166dup	ENSP00000495101.1:n.-168_-166dup
ENST00000328300.10:c.-168_-166dup	ENSP00000331902.6:n.-168_-166dup
ENST00000361603.6:c.-168_-166dup	ENSP00000354505.2:n.-168_-166dup
ENST00000470339.1:n.17_19dup
ENST00000477429.1:n.115_117dup
NM_000495.4:c.-168_-166dup	NP_000486.1:n.-168_-166dup
NM_033380.2:c.-168_-166dup	NP_203699.1:n.-168_-166dup
XM_005262070.2:c.-168_-166dup	XP_005262127.1:n.-168_-166dup
XM_005262072.3:c.-168_-166dup	XP_005262129.1:n.-168_-166dup
XM_006724616.2:c.-120-48_-120-46dup	XP_006724679.1:n.-120-48_-120-46dup
XM_011530850.1:c.-168_-166dup	XP_011529152.1:n.-168_-166dup
NM_000495.5:c.-168_-166dup	NP_000486.1:n.-168_-166dup
NM_033380.3:c.-168_-166dup MANE Select	NP_203699.1:n.-168_-166dup