Canonical Allele Identifier: CA2623672645
Gene: COL4A1 HGNC NCBI

Linked Data

gnomAD v4: 13-110169497-AACACACACACACACAC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169511_110169526del , CM000675.2:g.110169511_110169526del GRCh38
NC_000013.10:g.110821858_110821873del , CM000675.1:g.110821858_110821873del GRCh37
NC_000013.9:g.109619859_109619874del NCBI36
NG_011544.2:g.142637_142652del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3876+116_3876+131del MANE Select ENSP00000364979.4:n.3876+116_3876+131del
ENST00000650424.1:c.32+116_32+131del
ENST00000375820.8:c.3876+116_3876+131del ENSP00000364979.4:n.3876+116_3876+131del
NM_001845.5:c.3876+116_3876+131del NP_001836.3:n.3876+116_3876+131del
XM_011521048.1:c.3684+116_3684+131del XP_011519350.1:n.3684+116_3684+131del
XM_011521048.2:c.3684+116_3684+131del XP_011519350.1:n.3684+116_3684+131del
NM_001845.6:c.3876+116_3876+131del MANE Select NP_001836.3:n.3876+116_3876+131del
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