Canonical Allele Identifier: CA612622561
Gene: COL4A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169503dup , CM000675.2:g.110169503dup GRCh38
NC_000013.10:g.110821850dup , CM000675.1:g.110821850dup GRCh37
NC_000013.9:g.109619851dup NCBI36
NG_011544.2:g.142647dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3876+126dup MANE Select ENSP00000364979.4:n.3876+126dup
ENST00000650424.1:c.32+126dup
ENST00000375820.8:c.3876+126dup ENSP00000364979.4:n.3876+126dup
NM_001845.5:c.3876+126dup NP_001836.3:n.3876+126dup
XM_011521048.1:c.3684+126dup XP_011519350.1:n.3684+126dup
XM_011521048.2:c.3684+126dup XP_011519350.1:n.3684+126dup
NM_001845.6:c.3876+126dup MANE Select NP_001836.3:n.3876+126dup