Canonical Allele Identifier: CA643637400

Gene: COL4A5

Linked Data

• dbSNP Id: rs1260591436
• gnomAD v2: X-107939831-AGTGAAT-A
• gnomAD v3: X-108696601-AGTGAAT-A
• gnomAD v4: X-108696601-AGTGAAT-A
• MyVariant Identifiers: chrX:g.107939832_107939837del (hg19) ; chrX:g.108696602_108696607del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108696602_108696607del , CM000685.2:g.108696602_108696607del	GRCh38
NC_000023.10:g.107939832_107939837del , CM000685.1:g.107939832_107939837del	GRCh37
NC_000023.9:g.107826488_107826493del	NCBI36
NG_011977.1:g.261679_261684del
NG_011977.2:g.261679_261684del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.*224_*229del MANE Select	ENSP00000331902.7:n.*224_*229del
ENST00000361603.7:c.*224_*229del	ENSP00000354505.2:n.*224_*229del
ENST00000644079.1:n.2988_2993del
ENST00000328300.10:c.*224_*229del	ENSP00000331902.6:n.*224_*229del
ENST00000361603.6:c.*224_*229del	ENSP00000354505.2:n.*224_*229del
ENST00000504541.1:c.525_530del	ENSP00000424845.1:n.525_530del
ENST00000515658.1:c.630_635del
NM_000495.4:c.*224_*229del	NP_000486.1:n.*224_*229del
NM_033380.2:c.*224_*229del	NP_203699.1:n.*224_*229del
XM_005262070.2:c.*224_*229del	XP_005262127.1:n.*224_*229del
XM_006724616.2:c.*224_*229del	XP_006724679.1:n.*224_*229del
XM_011530849.1:c.*224_*229del	XP_011529151.1:n.*224_*229del
XM_011530851.1:c.*224_*229del	XP_011529153.1:n.*224_*229del
XM_011530849.2:c.*224_*229del	XP_011529151.2:n.*224_*229del
XM_017029259.2:c.*224_*229del	XP_016884748.1:n.*224_*229del
XM_017029260.1:c.*224_*229del	XP_016884749.1:n.*224_*229del
XM_017029263.2:c.*224_*229del	XP_016884752.1:n.*224_*229del
NM_000495.5:c.*224_*229del	NP_000486.1:n.*224_*229del
NM_033380.3:c.*224_*229del MANE Select	NP_203699.1:n.*224_*229del