Canonical Allele Identifier: CA1315404810
Gene: COL3A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189007536_189007542delinsGGTGAAC , CM000664.2:g.189007536_189007542delinsGGTGAAC GRCh38
NC_000002.11:g.189872262_189872268delinsGGTGAAC , CM000664.1:g.189872262_189872268delinsGGTGAAC GRCh37
NC_000002.10:g.189580507_189580513delinsGGTGAAC NCBI36
NG_007404.1:g.38164_38170delinsGGTGAAC , LRG_3:g.38164_38170delinsGGTGAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3193_3199delinsGGTGAAC ENSP00000415346.2:p.Gly1065=
ENST00000304636.9:c.3292_3298delinsGGTGAAC MANE Select ENSP00000304408.4:p.Gly1098=
ENST00000304636.7:c.3292_3298delinsGGTGAAC ENSP00000304408.3:p.Gly1098=
ENST00000317840.9:c.2528-518_2528-512delinsGGTGAAC ENSP00000315243.6:n.2528-518_2528-512delinsGGTGAAC
NM_000090.3:c.3292_3298delinsGGTGAAC , LRG_3t1:c.3292_3298delinsGGTGAAC NP_000081.1:p.Gly1098=
NM_000090.4:c.3292_3298delinsGGTGAAC MANE Select NP_000081.2:p.Gly1098=
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