Canonical Allele Identifier: CA2575453870
Gene: COL4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110174363_110174366del , CM000675.2:g.110174363_110174366del GRCh38
NC_000013.10:g.110826710_110826713del , CM000675.1:g.110826710_110826713del GRCh37
NC_000013.9:g.109624711_109624714del NCBI36
NG_011544.2:g.137784_137787del

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3406+80_3406+83del MANE Select ENSP00000364979.4:n.3406+80_3406+83del
ENST00000375820.8:c.3406+80_3406+83del ENSP00000364979.4:n.3406+80_3406+83del
NM_001845.5:c.3406+80_3406+83del NP_001836.3:n.3406+80_3406+83del
XM_011521048.1:c.3214+80_3214+83del XP_011519350.1:n.3214+80_3214+83del
XM_011521048.2:c.3214+80_3214+83del XP_011519350.1:n.3214+80_3214+83del
NM_001845.6:c.3406+80_3406+83del MANE Select NP_001836.3:n.3406+80_3406+83del