Canonical Allele Identifier: CA2573159164

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1458786
• ClinVar RCV Id: RCV001956552
• dbSNP Id: rs2147448022

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108440183_108440190del , CM000685.2:g.108440183_108440190del	GRCh38
NC_000023.10:g.107683413_107683420del , CM000685.1:g.107683413_107683420del	GRCh37
NC_000023.9:g.107570069_107570076del	NCBI36
NG_011977.1:g.5260_5267del
NG_012059.2:g.4285_4292del
NG_011977.2:g.5260_5267del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.58_65del MANE Select	ENSP00000331902.7:p.Trp20AlafsTer17
ENST00000361603.7:c.58_65del	ENSP00000354505.2:p.Trp20AlafsTer17
ENST00000642185.1:c.58_65del	ENSP00000495101.1:p.Trp20AlafsTer26
ENST00000328300.10:c.58_65del	ENSP00000331902.6:p.Trp20AlafsTer17
ENST00000361603.6:c.58_65del	ENSP00000354505.2:p.Trp20AlafsTer17
ENST00000470339.1:n.242_249del
ENST00000477429.1:n.340_347del
NM_000495.4:c.58_65del	NP_000486.1:p.Trp20AlafsTer17
NM_033380.2:c.58_65del	NP_203699.1:p.Trp20AlafsTer17
XM_005262070.2:c.58_65del	XP_005262127.1:p.Trp20AlafsTer17
XM_005262072.3:c.58_65del	XP_005262129.1:p.Trp20AlafsTer17
XM_006724616.2:c.58_65del	XP_006724679.1:p.Trp20AlafsTer17
XM_011530850.1:c.58_65del	XP_011529152.1:p.Trp20AlafsTer17
NM_000495.5:c.58_65del	NP_000486.1:p.Trp20AlafsTer17
NM_033380.3:c.58_65del MANE Select	NP_203699.1:p.Trp20AlafsTer17