Canonical Allele Identifier: CA2623672647
Gene: COL4A1 HGNC NCBI

Linked Data

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

HGVS Genome Assembly
NC_000013.11:g.110169503_110169526dup , CM000675.2:g.110169503_110169526dup GRCh38
NC_000013.10:g.110821850_110821873dup , CM000675.1:g.110821850_110821873dup GRCh37
NC_000013.9:g.109619851_109619874dup NCBI36
NG_011544.2:g.142629_142652dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3876+108_3876+131dup MANE Select ENSP00000364979.4:n.3876+108_3876+131dup
ENST00000650424.1:c.32+108_32+131dup
ENST00000375820.8:c.3876+108_3876+131dup ENSP00000364979.4:n.3876+108_3876+131dup
NM_001845.5:c.3876+108_3876+131dup NP_001836.3:n.3876+108_3876+131dup
XM_011521048.1:c.3684+108_3684+131dup XP_011519350.1:n.3684+108_3684+131dup
XM_011521048.2:c.3684+108_3684+131dup XP_011519350.1:n.3684+108_3684+131dup
NM_001845.6:c.3876+108_3876+131dup MANE Select NP_001836.3:n.3876+108_3876+131dup
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