Canonical Allele Identifier: CA960159984
Gene: COL4A1 HGNC NCBI

Linked Data

gnomAD v3: 13-110169939-G-GAGA
gnomAD v4: 13-110169939-G-GAGA
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169939_110169940insAGA , CM000675.2:g.110169939_110169940insAGA GRCh38
NC_000013.10:g.110822286_110822287insAGA , CM000675.1:g.110822286_110822287insAGA GRCh37
NC_000013.9:g.109620287_109620288insAGA NCBI36
NG_011544.2:g.142210_142211insTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3743-178_3743-177insTCT MANE Select ENSP00000364979.4:n.3743-178_3743-177insTCT
ENST00000375820.8:c.3743-178_3743-177insTCT ENSP00000364979.4:n.3743-178_3743-177insTCT
NM_001845.5:c.3743-178_3743-177insTCT NP_001836.3:n.3743-178_3743-177insTCT
XM_011521048.1:c.3551-178_3551-177insTCT XP_011519350.1:n.3551-178_3551-177insTCT
XM_011521048.2:c.3551-178_3551-177insTCT XP_011519350.1:n.3551-178_3551-177insTCT
NM_001845.6:c.3743-178_3743-177insTCT MANE Select NP_001836.3:n.3743-178_3743-177insTCT
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