Canonical Allele Identifier: CA2623642452
Gene: COL4A1 HGNC NCBI

Linked Data

gnomAD v4: 13-110166279-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110166281del , CM000675.2:g.110166281del GRCh38
NC_000013.10:g.110818628del , CM000675.1:g.110818628del GRCh37
NC_000013.9:g.109616629del NCBI36
NG_011544.2:g.145870del

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3973del MANE Select ENSP00000364979.4:p.Gln1325ArgfsTer?
ENST00000650424.1:c.129del
ENST00000375820.8:c.3973del ENSP00000364979.4:p.Gln1325ArgfsTer?
NM_001845.5:c.3973del NP_001836.3:p.Gln1325ArgfsTer?
XM_011521048.1:c.3781del XP_011519350.1:p.Gln1261ArgfsTer?
XM_011521048.2:c.3781del XP_011519350.1:p.Gln1261ArgfsTer?
NM_001845.6:c.3973del MANE Select NP_001836.3:p.Gln1325ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'