Canonical Allele Identifier: CA960159858
Gene: COL4A1 HGNC NCBI

Linked Data

gnomAD v3: 13-110169926-A-AGGGAGGG
gnomAD v4: 13-110169926-A-AGGGAGGG
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169926_110169927insGGGAGGG , CM000675.2:g.110169926_110169927insGGGAGGG GRCh38
NC_000013.10:g.110822273_110822274insGGGAGGG , CM000675.1:g.110822273_110822274insGGGAGGG GRCh37
NC_000013.9:g.109620274_109620275insGGGAGGG NCBI36
NG_011544.2:g.142223_142224insCCCTCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3743-165_3743-164insCCCTCCC MANE Select ENSP00000364979.4:n.3743-165_3743-164insCCCTCCC
ENST00000375820.8:c.3743-165_3743-164insCCCTCCC ENSP00000364979.4:n.3743-165_3743-164insCCCTCCC
NM_001845.5:c.3743-165_3743-164insCCCTCCC NP_001836.3:n.3743-165_3743-164insCCCTCCC
XM_011521048.1:c.3551-165_3551-164insCCCTCCC XP_011519350.1:n.3551-165_3551-164insCCCTCCC
XM_011521048.2:c.3551-165_3551-164insCCCTCCC XP_011519350.1:n.3551-165_3551-164insCCCTCCC
NM_001845.6:c.3743-165_3743-164insCCCTCCC MANE Select NP_001836.3:n.3743-165_3743-164insCCCTCCC
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