Canonical Allele Identifier: CA2697544723

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 2701316
• ClinVar RCV Id: RCV003549632

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108677496del , CM000685.2:g.108677496del	GRCh38
NC_000023.10:g.107920726del , CM000685.1:g.107920726del	GRCh37
NC_000023.9:g.107807382del	NCBI36
NG_011977.1:g.242573del
NG_011977.2:g.242573del

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.3809-4del MANE Select	ENSP00000331902.7:n.3809-4del
ENST00000361603.7:c.3791-4del	ENSP00000354505.2:n.3791-4del
ENST00000510690.2:n.303-4del
ENST00000328300.10:c.3809-4del	ENSP00000331902.6:n.3809-4del
ENST00000361603.6:c.3791-4del	ENSP00000354505.2:n.3791-4del
ENST00000489230.1:n.212-4del
ENST00000510690.1:n.303-4del
NM_000495.4:c.3791-4del	NP_000486.1:n.3791-4del
NM_033380.2:c.3809-4del	NP_203699.1:n.3809-4del
XM_005262070.2:c.3800-4del	XP_005262127.1:n.3800-4del
XM_006724616.2:c.3809-4del	XP_006724679.1:n.3809-4del
XM_011530849.1:c.3485-4del	XP_011529151.1:n.3485-4del
XM_011530851.1:c.1382-4del	XP_011529153.1:n.1382-4del
XM_011530849.2:c.3824-4del	XP_011529151.2:n.3824-4del
XM_017029259.2:c.3815-4del	XP_016884748.1:n.3815-4del
XM_017029260.1:c.3806-4del	XP_016884749.1:n.3806-4del
XM_017029261.1:c.3824-4del	XP_016884750.1:n.3824-4del
XM_017029263.2:c.2144-4del	XP_016884752.1:n.2144-4del
NM_000495.5:c.3791-4del	NP_000486.1:n.3791-4del
NM_033380.3:c.3809-4del MANE Select	NP_203699.1:n.3809-4del