Canonical Allele Identifier: CA2580100150

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1725657
• ClinVar RCV Id: RCV002309341

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108440192_108440193del , CM000685.2:g.108440192_108440193del	GRCh38
NC_000023.10:g.107683422_107683423del , CM000685.1:g.107683422_107683423del	GRCh37
NC_000023.9:g.107570078_107570079del	NCBI36
NG_011977.1:g.5269_5270del
NG_012059.2:g.4282_4283del
NG_011977.2:g.5269_5270del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.67_68del MANE Select	ENSP00000331902.7:p.Pro23CysfsTer16
ENST00000361603.7:c.67_68del	ENSP00000354505.2:p.Pro23CysfsTer16
ENST00000642185.1:c.67_68del	ENSP00000495101.1:p.Pro23CysfsTer25
ENST00000328300.10:c.67_68del	ENSP00000331902.6:p.Pro23CysfsTer16
ENST00000361603.6:c.67_68del	ENSP00000354505.2:p.Pro23CysfsTer16
ENST00000470339.1:n.251_252del
ENST00000477429.1:n.349_350del
NM_000495.4:c.67_68del	NP_000486.1:p.Pro23CysfsTer16
NM_033380.2:c.67_68del	NP_203699.1:p.Pro23CysfsTer16
XM_005262070.2:c.67_68del	XP_005262127.1:p.Pro23CysfsTer16
XM_005262072.3:c.67_68del	XP_005262129.1:p.Pro23CysfsTer16
XM_006724616.2:c.67_68del	XP_006724679.1:p.Pro23CysfsTer16
XM_011530850.1:c.67_68del	XP_011529152.1:p.Pro23CysfsTer16
NM_000495.5:c.67_68del	NP_000486.1:p.Pro23CysfsTer16
NM_033380.3:c.67_68del MANE Select	NP_203699.1:p.Pro23CysfsTer16