Canonical Allele Identifier: CA2662310310
Gene: COL3A1 HGNC NCBI

Linked Data

gnomAD v4: 2-189005581-AATAAC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189005583_189005587del , CM000664.2:g.189005583_189005587del GRCh38
NC_000002.11:g.189870309_189870313del , CM000664.1:g.189870309_189870313del GRCh37
NC_000002.10:g.189578554_189578558del NCBI36
NG_007404.1:g.36211_36215del , LRG_3:g.36211_36215del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2940+126_2940+130del ENSP00000415346.2:n.2940+126_2940+130del
ENST00000304636.9:c.3039+126_3039+130del MANE Select ENSP00000304408.4:n.3039+126_3039+130del
ENST00000304636.7:c.3039+126_3039+130del ENSP00000304408.3:n.3039+126_3039+130del
ENST00000317840.9:c.2528-2471_2528-2467del ENSP00000315243.6:n.2528-2471_2528-2467del
NM_000090.3:c.3039+126_3039+130del , LRG_3t1:c.3039+126_3039+130del NP_000081.1:n.3039+126_3039+130del
NM_000090.4:c.3039+126_3039+130del MANE Select NP_000081.2:n.3039+126_3039+130del
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