Canonical Allele Identifier: CA869824609

Gene: COL4A5

Linked Data

• dbSNP Id: rs1195556890
• gnomAD v3: X-108687171-CAGCAATG-C
• gnomAD v4: X-108687171-CAGCAATG-C
• MyVariant Identifiers: chrX:g.107930402_107930408del (hg19) ; chrX:g.108687172_108687178del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687173_108687179del , CM000685.2:g.108687173_108687179del	GRCh38
NC_000023.10:g.107930403_107930409del , CM000685.1:g.107930403_107930409del	GRCh37
NC_000023.9:g.107817059_107817065del	NCBI36
NG_011977.1:g.252250_252256del
NG_011977.2:g.252250_252256del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4316-309_4316-303del MANE Select	ENSP00000331902.7:n.4316-309_4316-303del
ENST00000361603.7:c.4298-309_4298-303del	ENSP00000354505.2:n.4298-309_4298-303del
ENST00000510690.2:n.810-309_810-303del
ENST00000328300.10:c.4316-309_4316-303del	ENSP00000331902.6:n.4316-309_4316-303del
ENST00000361603.6:c.4298-309_4298-303del	ENSP00000354505.2:n.4298-309_4298-303del
ENST00000489230.1:n.719-309_719-303del
ENST00000515658.1:c.112-309_112-303del
NM_000495.4:c.4298-309_4298-303del	NP_000486.1:n.4298-309_4298-303del
NM_033380.2:c.4316-309_4316-303del	NP_203699.1:n.4316-309_4316-303del
XM_005262070.2:c.4307-309_4307-303del	XP_005262127.1:n.4307-309_4307-303del
XM_006724616.2:c.4316-309_4316-303del	XP_006724679.1:n.4316-309_4316-303del
XM_011530849.1:c.3992-309_3992-303del	XP_011529151.1:n.3992-309_3992-303del
XM_011530851.1:c.1889-309_1889-303del	XP_011529153.1:n.1889-309_1889-303del
XM_011530849.2:c.4331-309_4331-303del	XP_011529151.2:n.4331-309_4331-303del
XM_017029259.2:c.4322-309_4322-303del	XP_016884748.1:n.4322-309_4322-303del
XM_017029260.1:c.4313-309_4313-303del	XP_016884749.1:n.4313-309_4313-303del
XM_017029263.2:c.2651-309_2651-303del	XP_016884752.1:n.2651-309_2651-303del
NM_000495.5:c.4298-309_4298-303del	NP_000486.1:n.4298-309_4298-303del
NM_033380.3:c.4316-309_4316-303del MANE Select	NP_203699.1:n.4316-309_4316-303del