Canonical Allele Identifier: CA2842530697
Gene: COL4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110212675dup , CM000675.2:g.110212675dup GRCh38
NC_000013.10:g.110865022dup , CM000675.1:g.110865022dup GRCh37
NC_000013.9:g.109663023dup NCBI36
NG_011544.2:g.99476dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.280-56dup MANE Select ENSP00000364979.4:n.280-56dup
ENST00000543140.6:c.280-56dup ENSP00000443348.1:n.280-56dup
ENST00000615732.2:c.88-56dup ENSP00000478222.2:n.88-56dup
ENST00000647797.1:c.159-56dup
ENST00000648170.1:n.159-56dup
ENST00000648966.1:c.159-56dup
ENST00000649484.1:c.159-56dup
ENST00000649738.1:n.410-56dup
ENST00000375820.8:c.280-56dup ENSP00000364979.4:n.280-56dup
ENST00000543140.5:c.280-56dup ENSP00000443348.1:n.280-56dup
ENST00000615732.1:c.88-56dup ENSP00000478222.1:n.88-56dup
NM_001303110.1:c.280-56dup NP_001290039.1:n.280-56dup
NM_001845.5:c.280-56dup NP_001836.3:n.280-56dup
XM_011521048.1:c.88-56dup XP_011519350.1:n.88-56dup
XM_011521048.2:c.88-56dup XP_011519350.1:n.88-56dup
NM_001845.6:c.280-56dup MANE Select NP_001836.3:n.280-56dup
NM_001303110.2:c.280-56dup NP_001290039.1:n.280-56dup