Canonical Allele Identifier: CA643637008

Gene: COL4A5

Linked Data

• dbSNP Id: rs1316635286
• gnomAD v2: X-107924229-GCT-G
• gnomAD v4: X-108680999-GCT-G
• MyVariant Identifiers: chrX:g.107924230_107924231del (hg19) ; chrX:g.108681000_108681001del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681000_108681001del , CM000685.2:g.108681000_108681001del	GRCh38
NC_000023.10:g.107924230_107924231del , CM000685.1:g.107924230_107924231del	GRCh37
NC_000023.9:g.107810886_107810887del	NCBI36
NG_011977.1:g.246077_246078del
NG_011977.2:g.246077_246078del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4087+44_4087+45del MANE Select	ENSP00000331902.7:n.4087+44_4087+45del
ENST00000361603.7:c.4069+44_4069+45del	ENSP00000354505.2:n.4069+44_4069+45del
ENST00000510690.2:n.581+44_581+45del
ENST00000328300.10:c.4087+44_4087+45del	ENSP00000331902.6:n.4087+44_4087+45del
ENST00000361603.6:c.4069+44_4069+45del	ENSP00000354505.2:n.4069+44_4069+45del
ENST00000489230.1:n.490+44_490+45del
NM_000495.4:c.4069+44_4069+45del	NP_000486.1:n.4069+44_4069+45del
NM_033380.2:c.4087+44_4087+45del	NP_203699.1:n.4087+44_4087+45del
XM_005262070.2:c.4078+44_4078+45del	XP_005262127.1:n.4078+44_4078+45del
XM_006724616.2:c.4087+44_4087+45del	XP_006724679.1:n.4087+44_4087+45del
XM_011530849.1:c.3763+44_3763+45del	XP_011529151.1:n.3763+44_3763+45del
XM_011530851.1:c.1660+44_1660+45del	XP_011529153.1:n.1660+44_1660+45del
XM_011530849.2:c.4102+44_4102+45del	XP_011529151.2:n.4102+44_4102+45del
XM_017029259.2:c.4093+44_4093+45del	XP_016884748.1:n.4093+44_4093+45del
XM_017029260.1:c.4084+44_4084+45del	XP_016884749.1:n.4084+44_4084+45del
XM_017029263.2:c.2422+44_2422+45del	XP_016884752.1:n.2422+44_2422+45del
NM_000495.5:c.4069+44_4069+45del	NP_000486.1:n.4069+44_4069+45del
NM_033380.3:c.4087+44_4087+45del MANE Select	NP_203699.1:n.4087+44_4087+45del