Canonical Allele Identifier: CA2623672787
Gene: COL4A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169875dup , CM000675.2:g.110169875dup GRCh38
NC_000013.10:g.110822222dup , CM000675.1:g.110822222dup GRCh37
NC_000013.9:g.109620223dup NCBI36
NG_011544.2:g.142276dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3743-112dup MANE Select ENSP00000364979.4:n.3743-112dup
ENST00000375820.8:c.3743-112dup ENSP00000364979.4:n.3743-112dup
NM_001845.5:c.3743-112dup NP_001836.3:n.3743-112dup
XM_011521048.1:c.3551-112dup XP_011519350.1:n.3551-112dup
XM_011521048.2:c.3551-112dup XP_011519350.1:n.3551-112dup
NM_001845.6:c.3743-112dup MANE Select NP_001836.3:n.3743-112dup