Canonical Allele Identifier: CA960160002
Gene: COL4A1 HGNC NCBI

Linked Data

gnomAD v3: 13-110169942-AGGGAATAGAAACACTACTATCTCTGATAAAACACTGGACCGACAATGTGAACCCTTGAGACAGAAATTGAGGAAGGTCTGGGAAGGAAGGAAGGGAGGGAAGG-A
gnomAD v4: 13-110169942-AGGGAATAGAAACACTACTATCTCTGATAAAACACTGGACCGACAATGTGAACCCTTGAGACAGAAATTGAGGAAGGTCTGGGAAGGAAGGAAGGGAGGGAAGG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169943_110170045del , CM000675.2:g.110169943_110170045del GRCh38
NC_000013.10:g.110822290_110822392del , CM000675.1:g.110822290_110822392del GRCh37
NC_000013.9:g.109620291_109620393del NCBI36
NG_011544.2:g.142105_142207del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3743-283_3743-181del MANE Select ENSP00000364979.4:n.3743-283_3743-181del
ENST00000375820.8:c.3743-283_3743-181del ENSP00000364979.4:n.3743-283_3743-181del
NM_001845.5:c.3743-283_3743-181del NP_001836.3:n.3743-283_3743-181del
XM_011521048.1:c.3551-283_3551-181del XP_011519350.1:n.3551-283_3551-181del
XM_011521048.2:c.3551-283_3551-181del XP_011519350.1:n.3551-283_3551-181del
NM_001845.6:c.3743-283_3743-181del MANE Select NP_001836.3:n.3743-283_3743-181del
Search 100 bp 5'
Search 100 bp 3'