Canonical Allele Identifier: CA2694413844

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 2812336
• ClinVar RCV Id: RCV003685360
• gnomAD v4: X-108582932-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108582936del , CM000685.2:g.108582936del	GRCh38
NC_000023.10:g.107826166del , CM000685.1:g.107826166del	GRCh37
NC_000023.9:g.107712822del	NCBI36
NG_011977.1:g.148013del
NG_011977.2:g.148013del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.989del MANE Select	ENSP00000331902.7:p.Lys330ArgfsTer16
ENST00000361603.7:c.989del	ENSP00000354505.2:p.Lys330ArgfsTer16
ENST00000328300.10:c.989del	ENSP00000331902.6:p.Lys330ArgfsTer16
ENST00000361603.6:c.989del	ENSP00000354505.2:p.Lys330ArgfsTer16
ENST00000483338.1:n.445del
NM_000495.4:c.989del	NP_000486.1:p.Lys330ArgfsTer16
NM_033380.2:c.989del	NP_203699.1:p.Lys330ArgfsTer16
XM_005262070.2:c.989del	XP_005262127.1:p.Lys330ArgfsTer16
XM_005262072.3:c.989del	XP_005262129.1:p.Lys330ArgfsTer16
XM_006724616.2:c.989del	XP_006724679.1:p.Lys330ArgfsTer16
XM_011530849.1:c.665del	XP_011529151.1:p.Lys222ArgfsTer16
XM_011530850.1:c.989del	XP_011529152.1:p.Lys330ArgfsTer16
XM_011530849.2:c.1004del	XP_011529151.2:p.Lys335ArgfsTer16
XM_017029259.2:c.1004del	XP_016884748.1:p.Lys335ArgfsTer16
XM_017029260.1:c.1004del	XP_016884749.1:p.Lys335ArgfsTer16
XM_017029261.1:c.1004del	XP_016884750.1:p.Lys335ArgfsTer16
XM_017029262.2:c.1004del	XP_016884751.1:p.Lys335ArgfsTer16
XM_017029263.2:c.-721del	XP_016884752.1:n.-721del
NM_000495.5:c.989del	NP_000486.1:p.Lys330ArgfsTer16
NM_033380.3:c.989del MANE Select	NP_203699.1:p.Lys330ArgfsTer16