Canonical Allele Identifier: CA960160089
Gene: COL4A1 HGNC NCBI

Linked Data

gnomAD v3: 13-110170020-CTGGG-C
gnomAD v4: 13-110170020-CTGGG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110170021_110170024del , CM000675.2:g.110170021_110170024del GRCh38
NC_000013.10:g.110822368_110822371del , CM000675.1:g.110822368_110822371del GRCh37
NC_000013.9:g.109620369_109620372del NCBI36
NG_011544.2:g.142126_142129del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3743-262_3743-259del MANE Select ENSP00000364979.4:n.3743-262_3743-259del
ENST00000375820.8:c.3743-262_3743-259del ENSP00000364979.4:n.3743-262_3743-259del
NM_001845.5:c.3743-262_3743-259del NP_001836.3:n.3743-262_3743-259del
XM_011521048.1:c.3551-262_3551-259del XP_011519350.1:n.3551-262_3551-259del
XM_011521048.2:c.3551-262_3551-259del XP_011519350.1:n.3551-262_3551-259del
NM_001845.6:c.3743-262_3743-259del MANE Select NP_001836.3:n.3743-262_3743-259del
Search 100 bp 5'
Search 100 bp 3'