Canonical Allele Identifier: CA2118729726
Gene: COL4A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110166197_110166198delinsCA , CM000675.2:g.110166197_110166198delinsCA GRCh38
NC_000013.10:g.110818544_110818545delinsCA , CM000675.1:g.110818544_110818545delinsCA GRCh37
NC_000013.9:g.109616545_109616546delinsCA NCBI36
NG_011544.2:g.145952_145953delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.4021+34_4021+35delinsTG MANE Select ENSP00000364979.4:n.4021+34_4021+35delinsTG
ENST00000650424.1:c.177+34_177+35delinsTG
ENST00000375820.8:c.4021+34_4021+35delinsTG ENSP00000364979.4:n.4021+34_4021+35delinsTG
NM_001845.5:c.4021+34_4021+35delinsTG NP_001836.3:n.4021+34_4021+35delinsTG
XM_011521048.1:c.3829+34_3829+35delinsTG XP_011519350.1:n.3829+34_3829+35delinsTG
XM_011521048.2:c.3829+34_3829+35delinsTG XP_011519350.1:n.3829+34_3829+35delinsTG
NM_001845.6:c.4021+34_4021+35delinsTG MANE Select NP_001836.3:n.4021+34_4021+35delinsTG
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