Canonical Allele Identifier: CA2623672682
Gene: COL4A1 HGNC NCBI

Linked Data

dbSNP Id: rs2139154237
gnomAD v4: 13-110169521-C-CACAT
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169524_110169525insTACA , CM000675.2:g.110169524_110169525insTACA GRCh38
NC_000013.10:g.110821871_110821872insTACA , CM000675.1:g.110821871_110821872insTACA GRCh37
NC_000013.9:g.109619872_109619873insTACA NCBI36
NG_011544.2:g.142628_142629insATGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3876+107_3876+108insATGT MANE Select ENSP00000364979.4:n.3876+107_3876+108insATGT
ENST00000650424.1:c.32+107_32+108insATGT
ENST00000375820.8:c.3876+107_3876+108insATGT ENSP00000364979.4:n.3876+107_3876+108insATGT
NM_001845.5:c.3876+107_3876+108insATGT NP_001836.3:n.3876+107_3876+108insATGT
XM_011521048.1:c.3684+107_3684+108insATGT XP_011519350.1:n.3684+107_3684+108insATGT
XM_011521048.2:c.3684+107_3684+108insATGT XP_011519350.1:n.3684+107_3684+108insATGT
NM_001845.6:c.3876+107_3876+108insATGT MANE Select NP_001836.3:n.3876+107_3876+108insATGT
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