Canonical Allele Identifier: CA960159935
Gene: COL4A1 HGNC NCBI

Linked Data

gnomAD v3: 13-110169929-G-GAGGGAGGGAGGAAGGGAGGGAGGA
gnomAD v4: 13-110169929-G-GAGGGAGGGAGGAAGGGAGGGAGGA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169940_110169941insAAGGGAGGGAGGAAGGGAGGGAGG , CM000675.2:g.110169940_110169941insAAGGGAGGGAGGAAGGGAGGGAGG GRCh38
NC_000013.10:g.110822287_110822288insAAGGGAGGGAGGAAGGGAGGGAGG , CM000675.1:g.110822287_110822288insAAGGGAGGGAGGAAGGGAGGGAGG GRCh37
NC_000013.9:g.109620288_109620289insAAGGGAGGGAGGAAGGGAGGGAGG NCBI36
NG_011544.2:g.142220_142221insTCCTCCCTCCCTTCCTCCCTCCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3743-168_3743-167insTCCTCCCTCCCTTCCTCCCTCCCT MANE Select ENSP00000364979.4:n.3743-168_3743-167insTCCTCCCTCCCTTCCTCCCTC...
ENST00000375820.8:c.3743-168_3743-167insTCCTCCCTCCCTTCCTCCCTCCCT ENSP00000364979.4:n.3743-168_3743-167insTCCTCCCTCCCTTCCTCCCTC...
NM_001845.5:c.3743-168_3743-167insTCCTCCCTCCCTTCCTCCCTCCCT NP_001836.3:n.3743-168_3743-167insTCCTCCCTCCCTTCCTCCCTCCCT
XM_011521048.1:c.3551-168_3551-167insTCCTCCCTCCCTTCCTCCCTCCCT XP_011519350.1:n.3551-168_3551-167insTCCTCCCTCCCTTCCTCCCTCCCT...
XM_011521048.2:c.3551-168_3551-167insTCCTCCCTCCCTTCCTCCCTCCCT XP_011519350.1:n.3551-168_3551-167insTCCTCCCTCCCTTCCTCCCTCCCT...
NM_001845.6:c.3743-168_3743-167insTCCTCCCTCCCTTCCTCCCTCCCT MANE Select NP_001836.3:n.3743-168_3743-167insTCCTCCCTCCCTTCCTCCCTCCCT
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