Canonical Allele Identifier: CA960159597
Gene: COL4A1 HGNC NCBI

Linked Data

dbSNP Id: rs1877493600
gnomAD v3: 13-110169307-GTT-G
gnomAD v4: 13-110169307-GTT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169309_110169310del , CM000675.2:g.110169309_110169310del GRCh38
NC_000013.10:g.110821656_110821657del , CM000675.1:g.110821656_110821657del GRCh37
NC_000013.9:g.109619657_109619658del NCBI36
NG_011544.2:g.142841_142842del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3876+320_3876+321del MANE Select ENSP00000364979.4:n.3876+320_3876+321del
ENST00000650424.1:c.32+320_32+321del
ENST00000375820.8:c.3876+320_3876+321del ENSP00000364979.4:n.3876+320_3876+321del
NM_001845.5:c.3876+320_3876+321del NP_001836.3:n.3876+320_3876+321del
XM_011521048.1:c.3684+320_3684+321del XP_011519350.1:n.3684+320_3684+321del
XM_011521048.2:c.3684+320_3684+321del XP_011519350.1:n.3684+320_3684+321del
NM_001845.6:c.3876+320_3876+321del MANE Select NP_001836.3:n.3876+320_3876+321del
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