Canonical Allele Identifier: CA2800580995
Gene: COL4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169801_110169802insGGCCTGGGG , CM000675.2:g.110169801_110169802insGGCCTGGGG GRCh38
NC_000013.10:g.110822148_110822149insGGCCTGGGG , CM000675.1:g.110822148_110822149insGGCCTGGGG GRCh37
NC_000013.9:g.109620149_109620150insGGCCTGGGG NCBI36
NG_011544.2:g.142348_142349insCCCCAGGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3743-40_3743-39insCCCCAGGCC MANE Select ENSP00000364979.4:n.3743-40_3743-39insCCCCAGGCC
ENST00000375820.8:c.3743-40_3743-39insCCCCAGGCC ENSP00000364979.4:n.3743-40_3743-39insCCCCAGGCC
NM_001845.5:c.3743-40_3743-39insCCCCAGGCC NP_001836.3:n.3743-40_3743-39insCCCCAGGCC
XM_011521048.1:c.3551-40_3551-39insCCCCAGGCC XP_011519350.1:n.3551-40_3551-39insCCCCAGGCC
XM_011521048.2:c.3551-40_3551-39insCCCCAGGCC XP_011519350.1:n.3551-40_3551-39insCCCCAGGCC
NM_001845.6:c.3743-40_3743-39insCCCCAGGCC MANE Select NP_001836.3:n.3743-40_3743-39insCCCCAGGCC