Canonical Allele Identifier: CA2575453876
Gene: COL4A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110174382del , CM000675.2:g.110174382del GRCh38
NC_000013.10:g.110826729del , CM000675.1:g.110826729del GRCh37
NC_000013.9:g.109624730del NCBI36
NG_011544.2:g.137771del

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3406+67del MANE Select ENSP00000364979.4:n.3406+67del
ENST00000375820.8:c.3406+67del ENSP00000364979.4:n.3406+67del
NM_001845.5:c.3406+67del NP_001836.3:n.3406+67del
XM_011521048.1:c.3214+67del XP_011519350.1:n.3214+67del
XM_011521048.2:c.3214+67del XP_011519350.1:n.3214+67del
NM_001845.6:c.3406+67del MANE Select NP_001836.3:n.3406+67del
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