Canonical Allele Identifier: CA960160109
Gene: COL4A1 HGNC NCBI

Linked Data

gnomAD v3: 13-110170029-AAGGAAGGGAGGGAAGGAGGGAGGAAGGAGGGGAGGGAGGAGGGGAGGGGAGGGGAAGGAGGGAGGGAGAG-A
gnomAD v4: 13-110170029-AAGGAAGGGAGGGAAGGAGGGAGGAAGGAGGGGAGGGAGGAGGGGAGGGGAGGGGAAGGAGGGAGGGAGAG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110170041_110170110del , CM000675.2:g.110170041_110170110del GRCh38
NC_000013.10:g.110822388_110822457del , CM000675.1:g.110822388_110822457del GRCh37
NC_000013.9:g.109620389_109620458del NCBI36
NG_011544.2:g.142051_142120del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3743-337_3743-268del MANE Select ENSP00000364979.4:n.3743-337_3743-268del
ENST00000375820.8:c.3743-337_3743-268del ENSP00000364979.4:n.3743-337_3743-268del
NM_001845.5:c.3743-337_3743-268del NP_001836.3:n.3743-337_3743-268del
XM_011521048.1:c.3551-337_3551-268del XP_011519350.1:n.3551-337_3551-268del
XM_011521048.2:c.3551-337_3551-268del XP_011519350.1:n.3551-337_3551-268del
NM_001845.6:c.3743-337_3743-268del MANE Select NP_001836.3:n.3743-337_3743-268del
Search 100 bp 5'
Search 100 bp 3'