Canonical Allele Identifier: CA960160113
Gene: COL4A1 HGNC NCBI

Linked Data

gnomAD v3: 13-110170034-AGGGAG-A
gnomAD v4: 13-110170034-AGGGAG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110170037_110170041del , CM000675.2:g.110170037_110170041del GRCh38
NC_000013.10:g.110822384_110822388del , CM000675.1:g.110822384_110822388del GRCh37
NC_000013.9:g.109620385_109620389del NCBI36
NG_011544.2:g.142111_142115del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3743-277_3743-273del MANE Select ENSP00000364979.4:n.3743-277_3743-273del
ENST00000375820.8:c.3743-277_3743-273del ENSP00000364979.4:n.3743-277_3743-273del
NM_001845.5:c.3743-277_3743-273del NP_001836.3:n.3743-277_3743-273del
XM_011521048.1:c.3551-277_3551-273del XP_011519350.1:n.3551-277_3551-273del
XM_011521048.2:c.3551-277_3551-273del XP_011519350.1:n.3551-277_3551-273del
NM_001845.6:c.3743-277_3743-273del MANE Select NP_001836.3:n.3743-277_3743-273del
Search 100 bp 5'
Search 100 bp 3'