Canonical Allele Identifier: CA2623673432
Gene: COL4A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110174370dup , CM000675.2:g.110174370dup GRCh38
NC_000013.10:g.110826717dup , CM000675.1:g.110826717dup GRCh37
NC_000013.9:g.109624718dup NCBI36
NG_011544.2:g.137782dup

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3406+78dup MANE Select ENSP00000364979.4:n.3406+78dup
ENST00000375820.8:c.3406+78dup ENSP00000364979.4:n.3406+78dup
NM_001845.5:c.3406+78dup NP_001836.3:n.3406+78dup
XM_011521048.1:c.3214+78dup XP_011519350.1:n.3214+78dup
XM_011521048.2:c.3214+78dup XP_011519350.1:n.3214+78dup
NM_001845.6:c.3406+78dup MANE Select NP_001836.3:n.3406+78dup