Canonical Allele Identifier: CA960159956
Gene: COL4A1 HGNC NCBI

Linked Data

gnomAD v3: 13-110169933-G-GAGGGAGGAAGGGAGGAAGGA
gnomAD v4: 13-110169933-G-GAGGGAGGAAGGGAGGAAGGA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169940_110169941insAAGGGAGGAAGGAAGGGAGG , CM000675.2:g.110169940_110169941insAAGGGAGGAAGGAAGGGAGG GRCh38
NC_000013.10:g.110822287_110822288insAAGGGAGGAAGGAAGGGAGG , CM000675.1:g.110822287_110822288insAAGGGAGGAAGGAAGGGAGG GRCh37
NC_000013.9:g.109620288_109620289insAAGGGAGGAAGGAAGGGAGG NCBI36
NG_011544.2:g.142216_142217insTCCTTCCTCCCTTCCTCCCT

Transcript Alleles

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