Canonical Allele Identifier: CA960159959
Gene: COL4A1 HGNC NCBI

Linked Data

dbSNP Id: rs1877534406
gnomAD v3: 13-110169933-G-GAGGA
gnomAD v4: 13-110169933-G-GAGGA
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169936_110169937insAAGG , CM000675.2:g.110169936_110169937insAAGG GRCh38
NC_000013.10:g.110822283_110822284insAAGG , CM000675.1:g.110822283_110822284insAAGG GRCh37
NC_000013.9:g.109620284_109620285insAAGG NCBI36
NG_011544.2:g.142216_142217insTCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3743-172_3743-171insTCCT MANE Select ENSP00000364979.4:n.3743-172_3743-171insTCCT
ENST00000375820.8:c.3743-172_3743-171insTCCT ENSP00000364979.4:n.3743-172_3743-171insTCCT
NM_001845.5:c.3743-172_3743-171insTCCT NP_001836.3:n.3743-172_3743-171insTCCT
XM_011521048.1:c.3551-172_3551-171insTCCT XP_011519350.1:n.3551-172_3551-171insTCCT
XM_011521048.2:c.3551-172_3551-171insTCCT XP_011519350.1:n.3551-172_3551-171insTCCT
NM_001845.6:c.3743-172_3743-171insTCCT MANE Select NP_001836.3:n.3743-172_3743-171insTCCT
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