Canonical Allele Identifier: CA2623674586
Gene: COL4A1 HGNC NCBI

Linked Data

gnomAD v4: 13-110179180-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110179181del , CM000675.2:g.110179181del GRCh38
NC_000013.10:g.110831528del , CM000675.1:g.110831528del GRCh37
NC_000013.9:g.109629529del NCBI36
NG_011544.2:g.132969del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.2344+90del MANE Select ENSP00000364979.4:n.2344+90del
ENST00000649738.1:n.2474+90del
ENST00000375820.8:c.2344+90del ENSP00000364979.4:n.2344+90del
NM_001845.5:c.2344+90del NP_001836.3:n.2344+90del
XM_011521048.1:c.2152+90del XP_011519350.1:n.2152+90del
XM_011521048.2:c.2152+90del XP_011519350.1:n.2152+90del
NM_001845.6:c.2344+90del MANE Select NP_001836.3:n.2344+90del
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